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1.
Rev. cuba. inform. méd ; 13(1): e456, ene.-jun. 2021.
Article in Spanish | LILACS, CUMED | ID: biblio-1251723

ABSTRACT

Cuando Gregor Mendel descubrió las leyes de la herencia, la primera acogida fue la incomprensión. Más de treinta años después, la reacción fue dividida: algunos comenzaron a aplicar su enfoque hasta lograr gigantescos avances en los estudios genéticos durante toda la primera mitad del siglo XX, otros proclamaron a la genética como una pseudociencia. La cabeza visible de esta segunda tendencia fue el ingeniero agrónomo soviético Trofim Denísovich Lysenko (1898-1976), quien afirmaba que los seres vivos podían ser modificados únicamente por el ambiente, sin tener en cuenta su herencia genética. El gran perdedor de aquella polémica fue Lysenko, y con él, la ciencia soviética, y todo lo que ello pudo implicar para el desarrollo de la medicina y la agricultura de aquel gran país. A partir de 1952 los avances de la genética y la biología molecular han marchado a pasos agigantados, y nuestro país no se ha quedado atrás: las vacunas cubanas son resultado de la aplicación de la biotecnología al combate contra el horrendo flagelo de la Covid-19. Crucial en ese avance fue el éxito del proyecto del genoma humano, cuando se lograron descifrar 3200 millones de pares de bases de ADN que contienen unos 20,500 genes. Con la culminación del proyecto del genoma humano en 2003, y en concordancia con las ideas prevalecientes entre los biólogos de aquel momento, se anticipaba que los novedosos métodos genómicos permitirían encontrar las causas y sugerir el tratamiento para las enfermedades crónicas responsables de la mayor parte de la mortalidad entre los seres humanos. Como resultado, se impulsaron estudios de asociación a escala genómica (genome-wide association studies, GWAS). Sin embargo, los resultados de tales estudios fueron bastante modestos. Así, en gemelos se encontró que las bases genéticas comunes podían explicar solamente el 8 por ciento...(AU)


Subject(s)
Humans , Tooth, Deciduous , Exposome , Genetics , Molecular Biology
3.
Salud(i)ciencia (Impresa) ; 24(5): 238-244, mar.-abr. 2021. tab.
Article in Spanish | LILACS, BINACIS | ID: biblio-1283917

ABSTRACT

Se realizó una revisión narrativa sobre la genética del hipotiroidismo congénito (HC). Se utilizaron las bases de datos Medline/PubMed, LILACS-BIREME y SciELO. Se identificaron los estudios originales publicados entre 2000 y agosto de 2020. Las palabras clave utilizadas durante la búsqueda fueron las siguientes: "hipotiroidismo congénito (congenital hypothyroidism)", "genética (genetic)", "polimorfismos de nucleótido único (SNP) (single polymorphisms nucleotid)". Se revisaron 58 estudios originales que informan las bases moleculares del HC. Se ha definido el concepto básico del HC, así como las bases moleculares que están asociados con la aparición de dicho trastorno. La revisión de la literatura ha permitido identificar al menos 12 genes que codifican las proteínas, las cuales, al producirse mutaciones, están implicadas en el HC. De los 12 genes informados que desempeñan un papel importante en el HC, errores en 6 genes se han vinculado con el HC con disgenesia tiroidea, lo cual implica alteraciones en la morfogénesis de la glándula tiroides, mientras que mutaciones en otros 6 genes se han asociado con dishormonogénesis, que genera un bloqueo total o parcial de los procesos bioquímicos implicados en la síntesis y secreción de hormonas tiroideas. La prevalencia en Sudamérica varía aproximadamente desde 1 por cada 1170 hasta 1 por cada 8285 neonatos. El estudio de la genética molecular pone de manifiesto que, en el futuro, aportará datos importantes en cuanto a la identificación de nuevas mutaciones y asociaciones con fenotipos clínicos que podrían relacionarse con el HC, para, de esta manera, potenciar el diagnóstico y tratamiento


A narrative review was conducted on the genetics of congenital hypothyroidism. The Medline/PubMed, LILACS-BIREME, and SciELO databases were used. Original studies published between 2000 and August 2020 were identified. The keywords used during the search were as follows: "congenital hypothyroidism", "genetics", "polymorphisms SNPs". Fifty-eight original studies reviewing the molecular basis of congenital hypothyroidism were reviewed. The basic concept of congenital hypothyroidism has been defined as well as the molecular bases that are associated with the development of this disorder. The literature review has identified at least 12 genes encoding proteins that, when mutations occur, are involved in congenital hypothyroidism. Of the 12 genes reported to play an important role in congenital hypothyroidism, errors in 6 genes have been associated with congenital hypothyroidism with thyroid dysgenesis, which implies alterations in the morphogenesis of the thyroid gland. On the other hand, mutations in 6 other genes have been associated with dyshormonogenesis that generates a total or partial blockage of the biochemical processes involved in the synthesis and secretion of thyroid hormones. The prevalence in South America is reported to vary from approximately 1 per 1000 to 1 per 8000 newborns. The study of molecular genetics shows that in the future it will contribute to the identification of new mutations and associations with clinical phenotypes that could be related to congenital hypothyroidism, thus enhancing diagnosis and treatment


Subject(s)
Therapeutics , Thyroid Gland , Thyroid Hormones , Epidemiology , Congenital Hypothyroidism , Genes , Genetics , Databases, Bibliographic
4.
Medisan ; 25(2)mar.-abr. 2021. ilus
Article in Spanish | LILACS, CUMED | ID: biblio-1250352

ABSTRACT

Se describe el caso clínico de un adolescente de 18 años con antecedente patológico de una operación por hipertelorismo en su primer año de vida, quien fue asistido en el Servicio de Nefrología del Hospital Infantil Docente Norte Dr. Juan de la Cruz Martínez Maceira de Santiago de Cuba, debido a una disminución marcada de la función renal, por lo cual requirió terapias sustitutivas. Su estado persistió por más de 3 meses y se consideró como una insuficiencia renal crónica en fase terminal. Se realizaron varios exámenes complementarios en busca de la causa y se interconsultó con otras especialidades, como la de Genética Clínica, por la presencia de trastornos dismórficos; finalmente, se diagnosticó el síndrome de Robinow. El paciente permaneció con hemodiálisis por 2 años hasta que su condición fue estable para recibir un trasplante de riñón.


The case report of an 18 years adolescent is described with pathological history of a surgery due to hypertelorism in his first year of life who was assisted in the Nephrology Service of Dr. Juan de la Cruz Martínez Maceira Northern Teaching Children Hospital in Santiago de Cuba, due to a marked decrease of the renal function, reason why he required substitute therapies. His condition persisted for more than 3 months and it was considered as a chronic kidney failure in end stage. Several complementary exams were carried out to find out the cause and other specialties participated in the diagnosis, as Clinical Genetics, due to the presence of dysmorphic disorders; finally, Robinow syndrome was diagnosed. The patient remained with hemodialysis for 2 years until her condition was stable to receive a renal transplant.


Subject(s)
Renal Insufficiency, Chronic , Genetics , Kidney Failure, Chronic , Renal Dialysis , Kidney Transplantation , Hypertelorism
5.
Rev. colomb. gastroenterol ; 36(1): 51-57, ene.-mar. 2021. tab, graf
Article in Spanish | LILACS | ID: biblio-1251521

ABSTRACT

Resumen Introducción: la enfermedad de Wilson es una enfermedad heterogénea causada por mutaciones en el gen ATP7B. La presentación clínica es variable, en fenotipos hepáticos y neuropsiquiátricos. El objetivo de este estudio es describir una cohorte retrospectiva de pacientes. Materiales y métodos: estudio retrospectivo descriptivo de pacientes atendidos en el Hospital Pablo Tobón Uribe desde enero de 2004 a septiembre de 2017. Resultados: se reportaron 27 pacientes, 17 hombres y 10 mujeres. El tiempo de seguimiento medio fue de 2,18 años, el 40% presentó síntomas neurológicos; el 29%, psiquiátricos; y el 85%, alteración hepática. En el laboratorio, el 85% presentó ceruloplasmina baja; 55%, cobre urinario alto; en casos con biopsia hepática, 7 tenían depósito de cobre en coloraciones especiales. En neuroimágenes, el 84% presentó hallazgos sugestivos de enfermedad de Wilson y en 3 casos se documentó una mutación genética patogénica. Durante el seguimiento, el 51% mejoró clínica o bioquímicamente, el 11% se mantuvo estable y el 18% se deterioró. El 88% de los casos sobrevivió al final del seguimiento. Conclusiones: este estudio es la cohorte retrospectiva más grande de Colombia. Los resultados son base para nuevos estudios poblacionales buscando de manera activa la enfermedad para documentarla en su fase preclínica y, de este modo, impactar en el pronóstico.


Abstract Introduction: Wilson's disease is a heterogeneous disorder caused by mutations in the ATP7B gene. Its clinical presentation is variable in hepatic and neuropsychiatric phenotypes. The aim of this study is to describe a retrospective cohort of patients. Materials and methods: A descriptive retrospective study was carried out in patients treated at the Hospital Pablo Tobón Uribe from January 2004 to September 2017. Results: 27 patients were reported, 17 men and 10 women. The mean follow-up time was 2.18 years. 40% of the patients had neurological symptoms, 29% psychiatric symptoms, and 85% hepatic impairment. Lab tests showed that 85% had low ceruloplasmin and 55% had increased urinary copper. In cases that underwent liver biopsy, 7 had special copper colorations. Neuroimaging revealed that 84% had findings suggestive of Wilson's disease and a pathogenic genetic mutation was documented in 3 cases. During follow-up, 51% improved clinically or biochemically, 11% remained stable, and 18% deteriorated. 88% of cases survived at the end of follow-up. Conclusions: This study is the largest retrospective cohort carried out in Colombia. The results are the basis for new population-based studies actively seeking this disease to describe its preclinical development and thus impact prognosis.


Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Copper , Hepatolenticular Degeneration , Signs and Symptoms , Disease , Retrospective Studies , Genetics , Liver
6.
Arq. ciências saúde UNIPAR ; 25(1): 61-77, jan-abr. 2021.
Article in Portuguese | LILACS | ID: biblio-1151421

ABSTRACT

A obesidade é caracterizada pelo aumento excessivo da gordura corporal e está ligada ao estilo de vida, ao meio ambiente e a genética do indivíduo. O equilíbrio entre ingestão e gasto energético é controlado por mecanismos neurais, hormonais, químicos e genéticos. Estudos sugerem que o gene FTO (Fat mass and obesity associated) atua como regulador primário do acúmulo de gordura corporal, quando associado a SNPs (Single Nucleotide Polymorphism) específicos, predispõe à obesidade. O propósito deste trabalho foi verificar a produção científica, analisar e catalogar os estudos de polimorfismos no gene FTO associados à obesidade e suas comorbidades. A busca por publicações entre 2009 e 2018 foi realizada na base de dados SciELO com a palavra-chave "FTO". Foram encontrados 23 artigos originais dentro dos critérios da pesquisa que correlacionam o FTO à obesidade. O nome do autor principal, país, idioma, ano de publicação, título, objetivo, polimorfismo associado e os resultados dos estudos foram extraídos e organizados para facilitar a tabulação dos dados. Também foram pesquisados os números de citações de cada artigo, utilizando-se a plataforma Google Acadêmico. Embora o Brasil se encontre em primeiro lugar em produção científica para o gene FTO na base de dados prospectada, o número de artigos originais ainda é muito modesto. Assim, os resultados encontrados podem servir de subsídio no delineamento de novas pesquisas sobre os polimorfismos do gene FTO e as causas da obesidade.


Obesity is characterized by the excessive increase in body fat and is correlated to the lifestyle, environment, and also to the genetics of the individual. The balance between energy intake and expenditure is controlled by neural, hormonal, chemical, and genetic mechanisms. Studies suggest that the FTO (fat mass and obesity associated), a gene associated with fat mass, plays a role as a primary regulator of body fat buildup, when associated to specific Single Nucleotide Polymorphisms (SNPs), causing predisposition to obesity. This paper aimed at reviewing, analyzing, and cataloguing the studies on FTO gene polymorphisms associated with obesity and its comorbidities. The search was carried out in SciELO database, checking articles published between 2009 and 2018 using the keyword "FTO". Twenty-three original articles, matching the research criteria, correlating FTO either positively or negatively with obesity, were found. The main author's name, country, language, year of publication, title, objective, associated polymorphism, and the study results were extracted and organized to facilitate data tabulation. The citation numbers for each article were also searched by using the Google Scholar platform. Although Brazil ranks first in scientific production on the FTO gene in the surveyed database, the number of original articles is still very modest. Therefore, the results found in this paper may be used as a basis for the design of new research on the FTO gene polymorphisms and the causes of obesity.


Subject(s)
Polymorphism, Single Nucleotide , Genetics , Obesity/genetics , Satiety Response , Energy Intake/genetics , Body Mass Index , Adipose Tissue , Lipid Metabolism/genetics , Nutrigenomics , Fats , Genotype , Life Style , Metabolism/genetics
7.
Med. lab ; 25(1): 441-447, 2021. tabs, ilus
Article in Spanish | LILACS | ID: biblio-1292917

ABSTRACT

El síndrome CHARGE es un trastorno genético raro que generalmente se diagnostica durante el período prenatal o neonatal, con la identificación de numerosas anomalías dismórficas y congénitas, como coloboma, defectos cardiacos, atresia de coanas, retraso del crecimiento, hipogonadismo y defectos auditivos, con una incidencia de 1 por cada 12.000 a 15.000 nacidos vivos. Presenta un patrón de herencia autosómico dominante, y entre el 60% y el 70% de los casos se deben a mutaciones que alteran la secuencia del gen CHD7 en el cromosoma 8, las cuales en su mayoría (>90%) son mutaciones de novo. Se describe el caso de una paciente de 6 años con sospecha de síndrome de malformaciones múltiples, que presentó al examen físico talla baja, pabellones de baja implantación, frente amplia, antecedentes de atresia esofágica, hipoacusia neurosensorial, coloboma y riñón en herradura, los cuales son criterios mayores y menores para el diagnóstico clínico de la entidad. Posteriormente, se realizó secuenciación del exoma completo, detectándose alteración del gen CHD7, que confirmó el diagnóstico de síndrome CHARGE. Se debe tener presente que, aunque la prueba molecular confirma el diagnóstico, un gran porcentaje de los pacientes con diagnóstico clínico de síndrome CHARGE no presentan alteraciones en la secuencia de este gen; por lo tanto, el diagnóstico clínico, basado en las alteraciones fenotípicas, continúa demostrando su relevancia


CHARGE syndrome is a rare genetic disorder, which is usually diagnosed during the prenatal or neonatal period with the identification of numerous dysmorphic and congenital abnormalities, characterized by coloboma, heart defects, choanal atresia, retarded growth and development, hypogonadism, and hearing defects, with an incidence of 1 in every 12,000 to 15,000 live births. It has an autosomal dominant inheritance pattern, and between 60% and 70% of cases are caused by mutations in the CHD7 gene at chromosome 8, with the majority (>90%) of mutations occurring de novo. The case of a 6-year-old patient with a multiple malformation syndrome is described, who presented during the physical examination with short stature, ear abnormalities, prominent forehead, a history of esophageal atresia, sensorineural hearing loss, coloboma and horseshoe kidney, which are major and minor criteria for the clinical diagnosis of this condition. Subsequently, complete exome sequencing was performed, detecting a mutation in the CHD7 gene, that confirmed the diagnosis of CHARGE syndrome. It should be noted that although the molecular test confirms the diagnosis, a large percentage of patients with a clinical diagnosis of CHARGE syndrome do not have mutations in this gene sequence; therefore, clinical diagnosis, based on phenotypic features, continues demonstrating its relevance


Subject(s)
CHARGE Syndrome , Genetics , Mutation
8.
Neotrop. ichthyol ; 19(1): e200082, 2021. tab, graf
Article in English | ID: biblio-1287436

ABSTRACT

The migratory catfish Brachyplatystoma vaillantii is one of the most important fishery resources in the Amazon. Intense capture occurs associated to its life cycle. In order to know the genetic status, we sequenced the mitochondrial DNA control region from 150 individuals of B. vaillantii, collected in five fishing landing locations, covering the length of the Solimões-Amazonas River in Brazil. Genetic diversity parameters suggest there is no genetic differentiation between the five localities. Population's expansion indicated by R 2 and Fu's Fs tests was also confirmed by the high number of unique haplotypes found. The Analyses of molecular variance indicated that nearly all variability was contained within locations (99.86%), and estimates of gene flow among B. vaillantii were high (F ST = 0.0014). These results suggest that Brachyplatystoma vaillantii forms a panmitic population along the Solimões-Amazonas River and, has greater genetic variability than other species of the Brachyplatystoma genus available so far. Although the influence of different tributaries on B. vaillantii migration patterns remains uncertain, a single population in the main channel should be consider in future policies for management of this resource. However, since the species' life cycle uses habitats in several countries, its management and conservation depend greatly of internationally joined efforts.(AU)


O bagre migrador, Brachyplatystoma vaillantii, é um dos mais importantes recursos pesqueiros da Amazônia. Intensa captura ocorre associada ao seu ciclo de vida. Para conhecer seu status genético, sequenciamos a região de controle do DNA mitocondrial de 150 indivíduos, coletados em cinco locais de desembarque pesqueiro, abrangendo toda a extensão do rio Solimões-Amazonas no Brasil. Os parâmetros de diversidade genética sugerem que não existe diferenciação genética entre as cinco localidades amostradas. A expansão populacional indicada pelos testes R 2 e Fs de Fu, também foi confirmada pelo elevado número de haplótipos únicos encontrados. A análise de variância molecular indicou que quase toda a variabilidade estava contida nas localidades (99,86%), e as estimativas de fluxo gênico desta espécie eram altas (F ST = 0,0014). Esses resultados sugerem que Brachyplatystoma vaillantii forma uma população panmítica ao longo do rio Solimões-Amazonas com maior variabilidade genética que outras espécies do gênero Brachyplatystoma disponíveis no momento. Embora a influência dos diferentes afluentes na migração de B. vaillantii permaneça incerta, em futuras políticas de gestão deste recurso deve-se considerá-lo como uma única população no canal principal. Entretanto, uma vez que seu ciclo de vida abrange habitats em vários países, seu manejo e conservação dependem muito de esforços internacionais em conjunto.(AU)


Subject(s)
Animals , Genetic Variation , Catfishes , Ecosystem , Fisheries , Forecasting , Genetics
9.
Rev. colomb. cardiol ; 27(6): 501-510, nov.-dic. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1289265

ABSTRACT

Resumen Introducción: La hipercolesterolemia familiar homocigótica (HFHo) se caracteriza por niveles muy elevados de cLDL y por enfermedad aterosclerótica temprana. Aunque la frecuencia es baja (1/300.000), las complicaciones son muy severas y pueden ser evitadas. Encontrar y tratar esta población de manera temprana podría reducir la mortalidad. Se describen 36 casos en Colombia, en donde se calcula que haya entre 160 y 200 casos. Resultados: Un total de 36 pacientes con fenotipo sugestivo de HFHo fueron identificados y tratados en un período de observación de cuatro años. La media de edad fue 27 años (24 mujeres). 34 pacientes tuvieron un puntaje según la Red de Clínicas de Lípidos de Holanda (RCLH) mayor de 8 (diagnóstico definitivo) y los restantes 2 tenían puntaje equivalente a diagnóstico probable. Un cuarto de los casos procedían de la costa norte colombiana. En las pruebas genéticas, 14 fueron homocigóticos verdaderos para mutación del gen que codifica para el receptor de LDL (LDLR), 12 heterocigóticos compuestos, 2 heterocigóticos dobles y uno autosómico recesivo (LDLRAP1); 5 pacientes fueron heterocigóticos simples (LDLR) y 2 pacientes no autorizaron la prueba. En los homocigóticos verdaderos, la variante más frecuente encontrada fue la c.11G>A. 14 pacientes cursaron con enfermedad coronaria, 9 con estenosis carotídea, 8 con estenosis aórtica y 2 tuvieron ataques cerebrovasculares (ACV). 34 pacientes recibían estatinas (24 rosuvastatina), 30 recibían ezetimibe, 2 recibían evolocumab y 20 recibían lomitapide (dosis promedio 12,7mg). Ninguno recibió aféresis de cLDL. Los medicamentos, en general, fueron bien tolerados y la reducción promedio de cLDL con la terapia fue de 533,7mg/dl a 245,1mg/dl (54%). Conclusiones: Todos los pacientes recibieron tratamiento hipolipemiante y se encontraron alteraciones genéticas diagnósticas en todos aquellos que autorizaron el examen. Los niveles elevados de cLDL conllevan tanto riesgo que el tratamiento debe establecerse aún sin conocer el diagnóstico genético.


Abstract Background: Homozygous familial hypercholesterolemia (HoFH) is characterized for very high levels of cLDL and early cardiovascular disease. Although incidence is low (1/300 000), complications are very severe and can be avoided. Finding and treating this population promptly could reduce mortality. We describe 36 cases in Colombia, where 160 to 200 cases are expected. Results: 36 patients with phenotype of HoHF were identified and treated in a follow-up of 4 years. The mean age was 27 years (24 women). 34 of them had at least 8 points in the FH Dutch Lipid Clinic Criteria (definitive diagnosis) and two had probable diagnosis. A quarter of the cases came from the Colombian North Coast. In molecular tests, 14 were true homozygous for LDLR, 12 were compound heterozygous for LDLR, 2 double heterozygous and one was autosomal recessive; 5 were heterozygous and 2 patients did not authorized genetic test. In true homozygous subjects, the most frequent variant was c.11G>A. 14 patients had coronary disease, 9 carotid stenosis, 8 aortic stenosis and 2 had stroke. 34 patients were on statins (25 rosuvastatin), 30 were receiving ezetimibe, 2 were receiving a PSCK9 inhibitor (evolocumab) and 20 were on lomitapide with mean doses of 12.7mg. None received lipoprotein apheresis. Medications were very well tolerated. Changes in cLDL after therapy was from 533.7 mg/dL to 245 mg/dL, (54%). Conclusions: Treatment was started in all patients. We found genetic mutations in all patients with genetic tests. The high levels of cLDL mean such a high risk that treatment must be started promptly, even without a genetic test.


Subject(s)
Humans , Male , Female , Adult , Hypercholesterolemia , Alleles , Genetics , Hyperlipoproteinemia Type II , Lipids , Cholesterol, LDL , Mutation
10.
Gac. méd. boliv ; 43(2): 179-183, dic. 2020. ilus
Article in Spanish | LILACS | ID: biblio-1249981

ABSTRACT

El artículo se centra en la utilización de la nueva herramienta, CRISPR (repeticiones palindrómicas cortas agrupadas a intervalos regulares), la cual permite editar los genomas de los seres vivos de manera más precisa que otras técnicas; a lo largo del artículo se mencionan trabajos relacionados con la detención de la angiogénesis, cáncer, Sarcoma de Kaposi en inmunodeficiencias, Parkinson, regeneración y modificación genética en humanos, todas estas investigaciones tiene en común la utilización de la herramienta CRISPR. También se comenta las complicaciones éticas que conlleva utilizar esta tecnología en el ADN de células embrionarias humanas, que según diferentes criterios, podrían llevar a generar seres humanos “mejorados”, es decir no solo sin susceptibilidad a enfermedades degenerativas o incurables, sino también modificados en aspectos físicos que no necesariamente estarían ligados a alguna patología.


The article focuses on the use of the new tool, CRISPR (short palindromic repetitions grouped at regular intervals), which allows editing the genomes of living beings more accurately than other techniques; Throughout the article, works related to the arrest of angiogenesis, cancer, Kaposi’s sarcoma in immunodeficiencies, Parkinson’s, regeneration and genetic modification in humans are mentioned, all these investigations have in common the use of the CRISPR tool. You can also comment on the ethical complications that involve using this technology in the DNA of human embryonic cells, which according to different criteria, carry out improved human beings, that is not only without susceptibility to degenerative or incurable diseases, but also modified in physical aspects that are not linked to any pathology.


Subject(s)
DNA , Clustered Regularly Interspaced Short Palindromic Repeats , Sarcoma, Kaposi , Cells , Genome , Genetics , Neoplasms
11.
Rev. Fac. Med. (Bogotá) ; 68(4): 597-602, oct.-dic. 2020.
Article in Spanish | LILACS, COLNAL | ID: biblio-1149561

ABSTRACT

Resumen Los avances en la investigación clínica, genética y molecular del cáncer colorrectal (CCR) realizados durante los últimos años han permitido su detección temprana, así como su tratamiento oportuno. Sin embargo, uno de los mayores desafíos de esta enfermedad es su naturaleza heterogénea y la participación de diversas vías moleculares en su carcinogénesis. La implementación de las tecnologías ómicas -como la genómica, la proteómica, la transcriptómica y la epigenómica- en la investigación biomédica de pacientes con CCR hereditario ha permitido identificar nuevos genes o polimorfismos de nucléotido único (SNP, por su sigla en inglés) que afectan la expresividad del cáncer. Por otra parte, las herramientas bioinformáticas han contribuido a generar nuevas hipótesis sobre el CCR, orientando el abordaje de estos pacientes hacia una medicina personalizada. Este avance científico y tecnológico tiene un impacto en la salud, tanto a nivel individual como colectivo, por lo que es importante reflexionar sobre la viabilidad de desarrollar estrategias de salud pública para la implementación de un programa integral y genético de prevención y manejo del cáncer en Perú, en especial del CCR hereditario.


Abstract Progress in clinical, genetic and molecular research of colorectal cancer (CRC) in recent years has allowed its early detection and timely and targeted treatment. However, one of the greatest challenges is the heterogeneous nature of CRC and the involvement of various molecular pathways in its carcinogenesis. The implementation of technologies known as omics -such as genomics, proteomics, transcriptomics and epigenomics- in biomedical research on patients with hereditary CRC has allowed the identification of new genes or single nucleotide polymorphisms (SNPs) that affect the expressivity of cancer. Bioinformatics tools have also contributed to generate new hypotheses about CRC, guiding the approach to these patients towards personalized medicine. This scientific and technological progress has an impact on health, both at the individual and the collective level, so it is important to reflect on the feasibility of developing public health strategies for the implementation of a comprehensive and genetic program for the prevention and treatment of cancer in Peru, especially hereditary CRC.


Subject(s)
Humans , Colorectal Neoplasms , Public Health , Genetics
12.
Rev. Fac. Med. (Bogotá) ; 68(4): 586-596, oct.-dic. 2020. tab, graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1149560

ABSTRACT

Resumen El delirio en pacientes críticos es una condición médica que afecta tanto a adultos como a niños; en ambas poblaciones implica graves complicaciones como estancia hospitalaria prolongada, alto riesgo de muerte y deterioro cognitivo a largo plazo, así como mayores costos económicos en cuanto a la prestación de servicios de salud. La principal dificultad de esta condición en la población pediátrica es su adecuado reconocimiento, ya que puede presentarse en edades muy tempranas, incluso en niños lactantes, cuando sus signos y síntomas pueden confundirse o superponerse con otras patologías, tales como el síndrome de abstinencia. En consecuencia, en estos casos el uso de herramientas diagnósticas puede ser una labor compleja que implica múltiples dificultades. Antes de 2011 no había muchos estudios que abordaran la evaluación del delirio en niños. Sin embargo, ese mismo año se estableció la primera escala desarrollada específicamente para el monitoreo de pacientes en unidades de cuidado intensivo pediátrico, lo que llevó a un aumento significativo del número de casos de delirio en niños menores de 5 años críticamente enfermos; esta situación hizo que los pediatras se interesaran más en estudiar esta importante patología. La presente reflexión, basada en una revisión de la literatura, busca actualizar el amplio espectro fisiopatológico del delirio en niños críticamente enfermos y, de esta forma, mejorar su tamizaje, diagnóstico e intervenciones terapéuticas tempranas en todas las edades pediátricas, incluso en menores de 5 años.


Abstract Delirium in critically ill patients is a medical condition that affects adults and children alike and has serious consequences for both populations, including prolonged hospital stay, high risk of death, long-term cognitive impairment, as well as increased health care costs. In the pediatric population, the main complication of this condition lies in its difficult recognition given that it can occur at very early ages, even in infants, when its signs and symptoms can be confused or overlapped with other pathologies such as withdrawal syndrome. Consequently, diagnostic tools may be more difficult to implement and use in these cases. Studies on delirium in children were scarce until 2011, when the first scale designed specifically for monitoring patients in pediatric intensive care units was developed. Thanks to this scale, the number of delirium cases in critically ill children under 5 years of age significantly increased, which in turn, made pediatricians to be more interested in studying this important pathology. This reflection paper, based on a literature review, seeks to update the broad physiopathological spectrum of delirium in critically ill children and thus improve their screening, diagnosis and early treatment in all pediatric age groups, even in patients under 5 years of age.


Subject(s)
Humans , Colorectal Neoplasms , Genetics , Public Health
13.
Dement. neuropsychol ; 14(3): 223-236, July-Sept. 2020. tab, graf
Article in English | LILACS | ID: biblio-1133644

ABSTRACT

ABSTRACT. Alzheimer's disease (AD) and frontotemporal dementia (FTD) are neurodegenerative disorders that result in a significant burden to both patients and caregivers. By 2050, the number of people with dementia in Latin America will increase 4-fold. A deep understanding of the relevant genetic factors of AD and FTD is fundamental to tackle this reality through prevention. A review of different genetic variants that cause AD or FTD in Latin America was conducted. We searched Medline and PubMed databases using the keywords "Alzheimer's disease," "frontotemporal dementia," "mutation," "America," and "Latin America," besides specific Latin American countries. Forty-five items were chosen and analyzed. PSEN1 mutations are the commonest cause of genetic early-onset Alzheimer's disease (EOAD), followed by PSEN2 and APP mutations. Genetic FTD can be mainly explained by GRN and MAPT mutations, as well as C9orf72 G4C2 repeat expansion. APOE ε4 can modify the prevalence and incidence of late-onset Alzheimer's disease (LOAD), in addition to the cognitive performance in affected carriers.


RESUMO. A doença de Alzheimer (DA) e a demência frontotemporal (DFT) são distúrbios neurodegenerativos que causam uma sobrecarga significativa para pacientes e cuidadores. Em 2050, o número de pessoas com demência na América Latina aumentará 4 vezes. Uma compreensão profunda dos fatores genéticos relevantes da DA e da DFT é fundamental para enfrentar essa realidade por meio da prevenção. Foi realizada uma revisão de diferentes variantes genéticas que causam a DA ou a DFT na América Latina. Pesquisamos os bancos de dados Medline e PubMed usando as palavras-chave "doença de Alzheimer", "demência frontotemporal", "mutação", "América" e "América Latina", além de países latino-americanos específicos. Quarenta e cinco itens foram escolhidos e analisados. As mutações do PSEN1 são a causa mais comum da doença de Alzheimer genética de início precoce (DAIP), seguida pelas mutações do PSEN2 e da APP. A DFT genética pode ser explicada principalmente por mutações no GRN, MAPT e expansões repetidas da C9orf72 G4C2. O APOE ε4 pode modificar a prevalência e a incidência da doença de Alzheimer de início tardio (DAIT), mas também o desempenho cognitivo em portadores afetados.


Subject(s)
Humans , Alzheimer Disease , Frontotemporal Dementia , Genetics , Latin America
14.
Rev. bras. ortop ; 55(4): 470-475, Jul.-Aug. 2020. tab, graf
Article in English | LILACS | ID: biblio-1138040

ABSTRACT

Abstract Objective To evaluate the prevalence of family history of rotator cuff tear and the presence of tendinopathy in other joints in patients with rotator cuff tears and to compare them with paired controls. To estimate the odds ratio for rotator cuff tear for these two risk factors. Methods We performed a case-control study comparing patients submitted to treatment for rotator cuff tear with asymptomatic controls. All cases and controls were evaluated by imaging exams and matched by age (±2 years) and gender. We conducted an interview using a standardized questionnaire, and collected data on various risk factors. Results We evaluated 144 patients, 72 per group. Patients with rotator cuff tears reported a higher number of consanguineous relatives who underwent treatment for the same disease and tendon injuries in other joints compared to the controls (p= 0.005 and p= 0.045 respectively). Individuals with a family history of treatment for rotator cuff tear or with tendinopathies in other joints were more likely to present a rotator cuff tear, with odds ratios of 3.3 (95% confidence interval [95%CI] = 1.4-7.7) and 2.7 (95%CI = 1.1-6.9) respectively. Conclusions Patients with rotator cuff tear have a higher prevalence of family members with the same disease and tendinopathies or tendon injuries in other joints. The presence of consanguineous relatives with treatment for rotator cuff and tendinopathies in other joints are risk factors for the presence of rotator cuff tears.


Resumo Objetivo Avaliar as prevalências de antecedente familiar de rotura do manguito e de tendinopatia em outras articulações em pacientes com rotura do manguito rotador e compará-las com controles pareados. Estimar a razão de chances de uma rotura do manguito rotador para estes dois fatores de risco. Métodos Realizamos um estudo de caso-controle comparando pacientes submetidos ao tratamento para rotura do manguito rotador com controles assintomáticos. Todos os casos e controles foram avaliados por exames de imagem e pareados por idade (±2 anos) e sexo. Realizamos uma entrevista utilizando um questionário padronizado, e coletamos dados referentes a vários fatores de risco. Resultados Avaliamos 144 pacientes, 72 por grupo. Os pacientes com rotura do manguito rotador relataram, em maior número, a presença de familiares consanguíneos que realizaram tratamento para a mesma doença e de lesões tendíneas em outras articulações em relação aos indivíduos controles (p= 0,005 e p= 0,045, respectivamente). Indivíduos com antecedente familiar de tratamento para rotura do manguito rotador ou com tendinopatias em outras articulações tiveram maior probabilidade de apresentar rotura do manguito rotador, com razões de chances de 3,3 (intervalo de confiança de 95% [IC95%] = 1,4-7,7) e 2,7 (IC95% = 1,1-6,9), respectivamente. Conclusões Os pacientes com rotura do manguito rotador têm maior prevalência de familiares com a mesma doença e de tendinopatias ou lesões tendíneas em outras articulações. A presença de familiares consanguíneos com tratamento para rotura do manguito rotador e tendinopatias em outras articulações são fatores de risco para presença de roturas do manguito rotador.


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Tendon Injuries , Case-Control Studies , Probability , Surveys and Questionnaires , Risk Factors , Rotator Cuff , Trust , Tendinopathy , Control , Gender Identity , Genetics , Medical History Taking
15.
Rev. colomb. cardiol ; 27(4): 324-329, jul.-ago. 2020. tab
Article in English | LILACS, COLNAL | ID: biblio-1289233

ABSTRACT

Abstract Objective: to investigate the prevalence and risk factors in newborns with congenital heart defects (CHD). Methods: this case-control study included 234,386 births from January 2006 to June 2013 that were evaluated and registered in the Latin-American Collaborative Study of Congenital Malformations (ECLAMC) methodology, establishing the Bogota Birth Defects Surveillance and Follow-up Program (BBDSFP). Results: 234,368 births were registered and 277 of them were identified to have a CHD. The most common defect among all was ventricular septal defect (13.7%) followed by atrial septal defect (10.1%). As main associations we obtained: having any type of pre-gestational diabetes mellitus had an increased risk for the development of CHD (OR 16.36 CI: 4.54-58.35). Low weight newborns (less than 2,500 g) (OR: 4.13 CI: 3.13-5.44) and a gestational age lower than 36 weeks (OR: 4.92 CI: 3-5.44) were also linked to malformations. Conclusions: women with diabetes mellitus represent a high-risk pregnancy group, more work is needed to educate diabetic women, so CHD can be prevented and the outcomes of their pregnancy can be improved. Appropriate glycemic control before and during pregnancy may reduce CHD.


Resumen Objetivos: investigar la prevalencia y los factores de riesgo en recién nacidos con cardiopatías congénitas. Métodos: este estudio caso control incluyó 234.386 nacimientos desde enero del 2006 hasta junio del 2013, los cuales fueron evaluados y registrados según la metodología del Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC) estableciendo el programa de vigilancia de defectos congénitos de Bogotá. Resultados: de 234.368 pacientes fueron incluidos en el estudio, 277 fueron diagnosticados con cardiopatías congénitas. El defecto cardiaco más común fue la comunicación interventricular (13.7%) seguido por la comunicación interauricular (10.1%). Al evaluar los factores de riesgo se encontró que las madres con diabetes mellitus pregestacional tuvieron mayor riesgo de tener hijos con cardiopatías congénitas (OR 16.36 IC: 4.54-58.35) y que los pacientes con bajo peso al nacer (menor de 2.500 g) (OR: 4.13 IC: 3.13-5.44) y edad gestacional menor a 36 semanas (OR: 4.92 CI: 3-5.44) tenían mayor riesgo de ser diagnosticados con una cardiopatía congénita. Conclusiones: las pacientes diabéticas en embarazo tienen mayor riesgo de que sus hijos desarrollen una cardiopatía congénita. Por lo anterior se necesita realizar un mayor trabajo tanto de educación como de seguimiento a las mujeres diabéticas, para así prevenir cardiopatías congénitas y disminuir el resigo de sus embarazos.


Subject(s)
Humans , Male , Female , Infant, Newborn , Diabetes Mellitus , Heart Defects, Congenital , Congenital Abnormalities , Birth Weight , Pregnancy, High-Risk , Genetics
17.
Rev. colomb. nefrol. (En línea) ; 7(1): 97-112, ene.-jun. 2020. tab, graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1144377

ABSTRACT

Resumen La acidosis tubular renal distal es causada por un defecto en la excreción de iones de hidrogeno a nivel tubular distal, lo que aumenta el pH de la orina y disminuye el pH plasmático; esta es una enfermedad con varias manifestaciones clínicas asociadas. En este artículo se hace una revisión profunda sobre la acidosis tubular renal distal y se presenta el caso de tres hermanos (dos hombres y una mujer) con la entidad, siendo este uno de los primeros casos familiares reportados en Colombia. Los tres pacientes recibieron el diagnóstico durante el período de lactancia, presentaron nefrocalcinosis y tuvieron buena respuesta a la terapia con álcali iniciada de forma temprana, logrando eventualmente su suspensión. De manera curiosa, uno de los pacientes también presentó deficiencia de mevalonato quinasa con hiperinmunoglobulinemia D, una alteración no descrita con anterioridad. Esta asociación y la aparente falta de necesidad de continuar el manejo con álcali son atípicas a la luz del conocimiento actual, mereciendo especial consideración.


Abstract The distal renal tubular acidosis presents due to a defect in the excretion of hydrogen ions at the distal tubular level, causing an increase in the pH of the urine and a decrease in the plasma pH, with several associated clinical manifestations. This article makes a thorough review of distal renal tubular acidosis and presents the case of three siblings with the entity, two men and one woman, this being one of the first family cases reported in Colombia. All three received the diagnosis during the lactation period, presented nephrocalcinosis and good response to the alkali therapy started early, eventually achieving their suspension. Interestingly, one of them also presented deficiency mevalonate-kinase with hiperinmunoglobulinemia D, alteration not previously described. This association and the apparent lack of need for continued management with alkali are atypical in the light of current knowledge, deserving special consideration.


Subject(s)
Humans , Male , Female , Acidosis, Renal Tubular , Patients , Colombia , Siblings , Genetics , Nephrocalcinosis
18.
Psicol. ciênc. prof ; 40: 1-15, jan.-maio 2020.
Article in Portuguese | LILACS, INDEXPSI | ID: biblio-1150858

ABSTRACT

A ciência e a pós-graduação brasileiras remontam a um passado recente, com expressivo crescimento no decorrer das últimas décadas. Considerando o comportamento do cientista como objeto de estudo psicológico, o objetivo deste trabalho foi investigar possíveis diferenças entre as variáveis responsáveis por instalar e manter o comportamento acadêmico de pesquisadores seniores e iniciantes. Participaram desta pesquisa, de natureza exploratória, seis professores bolsistas de produtividade em pesquisa do Conselho Nacional de Desenvolvimento Científico e Tecnológico das áreas de Psicologia, Genética e Física ­ sendo um pesquisador sênior e um pesquisador iniciante de cada área. Os dados, coletados por meio de entrevistas, foram analisados mediante o procedimento de interpretação analítico-comportamental. A análise do relato verbal das participantes seniores indica que o comportamento acadêmico das entrevistadas foi instalado por meio de contingências associadas à formação clássica; os participantes iniciantes, por outro lado, foram expostos a uma formação básica profissionalizante. Em acréscimo, as participantes seniores titularam-se doutoras sob contingências informais, e os participantes iniciantes doutoraram-se por meio de contingências delimitadas institucionalmente. Na contemporaneidade, o comportamento acadêmico das participantes seniores é mantido por meio de contingências de reforçamento natural. O relato verbal dos participantes iniciantes indica que o comportamento acadêmico dos entrevistados é, atualmente, distanciado das suas consequências naturais imediatas. As principais diferenças encontradas entre as contingências originárias e mantenedoras do comportamento acadêmico dos participantes seniores e iniciantes parecem exprimir, especialmente, as diferentes contingências a que os entrevistados foram expostos ao longo da formação acadêmico-científica....(AU)


Brazilian science and graduate studies go back to a recent past, with significant growth over the last decades. Considering the scientist's behavior as an object of psychological study, this study investigated possible differences among the variables responsible for installing and maintaining the academic behavior of senior and beginner researchers. Six professors with productiveness scholarships granted by the CNPq in the areas of Psychology, Genetics and Physics (always in pairs of one senior researcher and one beginner researcher in each area) participated in this study. The data that were collected through interviews were analyzed with use of the analytic-behavioral interpretation procedure. The analysis of the verbal report of senior participants indicates that the academic behavior of interviewees was established through contingencies associated with classical formation; the beginner participants, on the other hand, were exposed to basic vocational training. Moreover, the senior participants qualified for doctorates under informal contingencies, and the beginner participants were doctored by means of institutionally-delimited contingencies. Currently, the academic behavior of senior participants is maintained through contingencies of natural reinforcement. The verbal account of the beginner participants, in turn, indicates that the academic behavior of the interviewees is currently distanced from its immediate natural consequences. The main differences found between the contingencies that originated and maintained the academic behavior of senior and beginner participants seem to express, especially, the different contingencies to which the interviewees were exposed throughout their academic training....(AU)


La ciencia y el posgrado brasileños se remontan a un pasado reciente, con un significativo crecimiento en el transcurso de las últimas décadas. Considerando el comportamiento del científico como objetivo de estudio psicológico, el objetivo de este trabajo fue investigar las posibles diferencias entre las variables responsables de instalar y mantener el comportamiento académico de investigadores séniores y principiantes. Participaron de este estudio, de carácter exploratorio, seis profesores con becas de productividad en investigaciones del Consejo Nacional de Desarrollo Científico y Tecnológico de las áreas de Psicología, Genética y Física ­siendo un investigador sénior y un investigador principiante de cada área­. Los resultados obtenidos por medio de entrevistas fueron analizados según el método de interpretación analítico-conductual. El análisis del relato verbal de las participantes séniores indica que el comportamiento académico de las entrevistadas fue instalado por medio de contingencias asociadas a la formación clásica; los participantes principiantes, por otro lado, fueron expuestos a una formación básica profesional. Además, las participantes séniores se titularon doctoras bajo contingencias informales, y los participantes principiantes se doctoraron por medio de contingencias delimitadas institucionalmente. En la contemporaneidad, el comportamiento académico de las participantes séniores se mantiene por medio de contingencias de refuerzo natural. El relato verbal de los participantes principiantes, por su parte, apunta que el comportamiento académico de los entrevistados es actualmente distanciado de sus consecuencias naturales inmediatas. Las principales diferencias encontradas entre las contingencias originarias y mantenedoras del comportamiento académico de los participantes séniores e principiantes parecen expresar, especialmente, las diferentes contingencias a las que los entrevistados fueron expuestos a lo largo de la formación académico-científica....(AU)


Subject(s)
Humans , Male , Female , Adult , Aged , Psychology , Research Personnel , Science , Behavior , Faculty , Physics , Powders , Fellowships and Scholarships , Genetics
19.
Edumecentro ; 12(1): 169-184, ene.-mar. 2020. tab, graf
Article in Spanish | LILACS | ID: biblio-1090005

ABSTRACT

RESUMEN Fundamento: la asimilación de los contenidos de la asignatura Genética Médica requiere un aprendizaje significativo para responder a las exigencias del modelo del profesional y al acelerado desarrollo de la propia ciencia. Objetivo: identificar los factores que dificultan la asimilación de los contenidos de Genética Medica en estudiantes de Medicina. Métodos: se realizó un estudio descriptivo transversal en la Universidad de Ciencias Médicas "Dr. Zoilo Marinello Vidaurreta" de la provincia Las Tunas, durante el curso 2016-2017. Se emplearon métodos teóricos: análisis-síntesis, inductivo-deductivo e histórico-lógico; y empíricos: prueba pedagógica, encuesta en forma de cuestionario y entrevista de carácter grupal, los que contribuyeron a la fundamentación y elaboración de los resultados. Resultados: se constataron dificultades en la retención de los contenidos de Genética Médica en los estudiantes; se reconocieron como factores que inciden los inadecuados métodos y medios de enseñanza, insuficiencias de bibliografía y su complejidad, y la descontextualización de las situaciones problémicas con las del futuro desempeño profesional. Conclusiones: los factores que dificultan la asimilación de los contenidos de Genética Médica están condicionados por la deficiente utilización de estrategias de enseñanza aprendizaje, en las que deben predominar métodos activos y medios de enseñanza novedosos y motivadores.


ABSTRACT Background: the assimilation of the contents of the Medical Genetics subject requires meaningful learning to respond to the demands of the professional model and the accelerated development of science itself. Objective: to identify the factors which hinder the assimilation of the contents of Medical Genetics in medical students. Method: a cross-sectional descriptive study was carried out at "M D. Zoilo Marinello Vidaurreta" University of Medical Sciences from Las Tunas province, during the 2016-2017 academic year. Theoretical methods were used: analysis-synthesis, inductive-deductive and systemic-structural; and empirical ones: pedagogical test, questionnaire survey and group interview, which contributed to the foundation and elaboration of results. Results: difficulties were observed in the retention of the contents of Medical Genetics in the students; factors that affect were recognized they are the inadequate methods and teaching aids, inadequacies of bibliography and its complexity, and the decontextualization of the problem solving situations with those of future professional performance. Conclusions: the factors that hinder the assimilation of the contents of Medical Genetics are conditioned by the deficient use of teaching-learning strategies, in which active methods and innovative and motivating teaching methods must predominate.


Subject(s)
Health Strategies , Education, Medical , Genetics , Learning
20.
Biosci. j. (Online) ; 36(2): 619-627, 01-03-2020. ilus
Article in English | LILACS | ID: biblio-1146430

ABSTRACT

In this study E. coli recombinant clones that express the EC20 synthetic phytochelatin intracellularly were constructed. The increasement of Cd2+ biosorption capacity, and, also, the increasement of resistance to this toxic metal were analyzed. A gene that encodes the synthetic phytochelatin EC20 wassynthesized in vitro. The EC20 synthetic gene was amplified by PCR, inserted into the DNA cloning vectors pBluescript®KS+ and pGEM®-TEasy, and also into the expression vectors pTE [pET-28(a)® derivative] and pGEX-T4-2®. The obtained recombinant plasmids were employed for genetic transformation of E. coli: pBsKS-EC20 and pGEM-EC20, they were introduced into DH10B and DH5α strains, similarly to pTE-EC20 and pGEX-EC20 that were introduced into BL21 strain. The EC20 expression was confirmed by SDS-PAGE analysis. The recombinant clones' resistances to Cd2+ were determined by MIC analyses. The MIC for Cd2+ of DH10B/pBKS-EC20 and DH10B/pGEM-EC20 were 2.5 mM (EC20 induced), and 0.312 mM (EC20 repressed);respectively, 16 and 2 times higher than the control DH10B/pBsKS (0.156 mM). The MIC for Cd2+of BL21/pTE-EC20 was 10.0 mM (EC20 induced) and 2.5 mM (EC20 repressed), compared with the control BL21/pTE which was only 1.25 mM. Analysis of ICP-AES showed that BL21/pGEX-EC20, after growth on the condition of EC20 expression, absorbed 37.5% of Cd2+, and even when cultured into the non-induction condition of EC20 expression, it absorbed 11.5%.These results allow the conclusion thatrecombinant E. coli clonesexpressing the synthetic phytochelatin EC20 show increased capacity for Cd2+ biosorption and enhanced resistance to this toxic ion.


Foram construídos clones recombinantes de E. coli que expressam intracelularmente a fitoquelatina sintética EC20. Foi analisado o aumento na capacidade de biossorção de Cd2+ e o aumento da resistência a este metal tóxico.Foi sintetizado in vitro um gene codificante da fitoquelatina sintética EC20. O gene EC20 sintético foi amplificado por PCR, inserido nos vetores de clonagem pBluescript®KS+ e pGEM®-TEasy, e nos vetores de expressão pTE [derivado de pET-28(a)®] e pGEX-T4-2®. Os plasmídeos recombinantes foram empregados na transformação genética de E. coli: pBsKS-EC20 e pGEM-EC20 foram introduzidos nas linhagens DH10B e DH5α; e, pTE-EC20 e pGEX-EC20 na linhagem BL21-DE3. A expressão EC20 foi analisada por SDS-PAGE. As resistências a Cd2+ dos clones recombinantes foram determinadas por análises de MIC.A MIC para Cd2+ de DH10B/pBsKS-EC20 e de DH10B/pGEM-EC20 foi 2,5 mM (EC20induzido) e 0,312 mM (EC20 reprimido); respectivamente, 16 e 2 vezes superiores às do controle DH10B/pBsKS (0,156 mM). A MIC para Cd2+ de BL21/pTE-EC20 foi 10,0 mM (EC20 induzido) e 2,5 mM (EC20 reprimido), comparado a do controle BL21/pTE que foi apenas 1,25 mM. A análise de ICP-AES mostrou que BL21/pGEX-EC20, após crescimento na condição de expressão de EC20, absorveu 37,5% de Cd2+e, mesmo quando cultivado na condição de não-indução de expressão EC20, absorveu 11,5% de Cd2+. Estes resultados permitem a conclusão de que os clones recombinantes de E. coli que expressam a fitoquelatina sintética EC20 apresentam aumento da capacidade de biossorção de Cd2+ e de resistência a este íon tóxico.


Subject(s)
Cadmium , Escherichia coli , Phytochelatins , Biodegradation, Environmental , Clone Cells , Genetics
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