Hernandulcin Production in Cell Suspensions of Phyla Scaberrima: Exploring Hernandulcin Accumulation through Physical and Chemical Stimuli.

Hernandulcin (HE) is a non-caloric sweetener synthesized by the Mexican medicinal plant Phyla scaberrima. Herein we present the results of HE production through cell suspensions of P. scaberrima as well as the influence of pH, temperature, biosynthetic precursors and potential elicitors to enhance HE accumulation. The incorporation of mevalonolactone (30-400 mg L-1 ) farnesol (30-400 mg L-1 ), AgNO3 (0.025-0.175 M), cellulase (5-60 mg L-1 ; 0.3 units/mg), chitin (20-140 mg L-1 ) and (+)-epi-α-bisabolol (300-210 mg L-1 ) to the cell suspensions, resulted in a differential accumulation of HE and biomass. Among elicitors assayed, chitin, cellulase and farnesol increased HE production from 93.2 to ∼160 mg L-1 but, (+)-epi-α-bisabolol (obtained by a synthetic biology approach) increased HE accumulation up to 182.7 mg L-1 . HE produced by the cell suspensions was evaluated against nine strains from six species of gastrointestinal bacteria revealing moderate antibacterial activity (MIC, 214-465 µg mL-1 ) against Staphylococcus aureus, Escherichia coli and Helicobacter pylori. Similarly, HE showed weak toxicity against Lactobacillus sp. and Bifidobacterium bifidum (>1 mg mL-1 ), suggesting a selective antimicrobial activity on some species of gut microbiota. According to our results, chitin and (+)-epi-α-bisabolol were the most effective molecules to enhance HE accumulation in cell suspensions of P. scaberrima.

A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases.

The spinocerebellar ataxia type 2 is a neurodegenerative disease with autosomal dominant inheritance; clinically characterized by progressive cerebellar ataxia, slow ocular saccades, nystagmus, ophthalmoplegia, dysarthria, dysphagia, cognitive deterioration, mild dementia, peripheral neuropathy. Infantile onset is a rare presentation that only has been reported in four instances in the literature. In the present work a boy aged 5 years 7 months was studied due to horizontal gaze-evoked nystagmus, without saccades, ataxic gait, dysarthria, dysphagia, dysmetria, generalized spasticity mainly pelvic, bilateral Babinsky. The mother aged 27 years-old presented progressive cerebellar ataxia, dysarthria, dysmetria, dysdiadochokinesis, limb ataxia and olivopontocerebellar atrophy. The molecular analysis was made by identifying the expansion repeats in tandem by long PCR to analyze the repeats in the ATXN2 gene. We found an extreme CAG expansion repeats of ~884 repeats in the child. We describe a Mexican child affected by SCA2 with an infantile onset, associated with a high number of CAG repeats previously no reported and anticipation phenomenon.

[Ataxina-2, nuevo blanco en enfermedades genéticas complejas].

El gen de la ataxina-2 es un blanco en la patogénesis de enfermedades complejas, entre ellas los factores de riesgo cardiovascular y enfermedades neurodegenerativas. El gen ATXN2 tiene un VNTR en el exón 1, cuya expansión por encima de las 30 repeticiones provoca al desarrollo de ataxia espinocerebelosa tipo 2; las repeticiones en rango menor se asocian con diabetes tipo 2 o esclerosis lateral amiotrófica. También este locus está ligado con fenotipos metabólicos e inflamatorios. En conclusión, el gen puede ser utilizado como marcador clínico de fenotipos metabólicos y neurológicos, lo cual está relacionado con su efecto pleiotrópico.

The ataxin 2 gene is a target in the pathogenesis of complex diseases, including cardiovascular risk factors and neurodegenerative diseases. ATXN2 gen has VNTR in exon 1, whose expansion exceeding 30 repetitions leads to the development of spinocerebellar ataxia type 2; lower-range repetitions are associated with type 2 diabetes or amyotrophic lateral sclerosis. This locus is also linked with metabolic and inflammatory phenotypes. In conclusion, this gene can be used as a clinical marker of metabolic and neurological phenotypes, which is related to its pleiotropic effect.

Genetic approach in amyotrophic lateral sclerosis.

The superoxide dismutase type 1 (SOD1) gene is the first responsible gene mapped in amyotrophic lateral sclerosis type 1 (ALS1), and it codes for the enzyme SOD1, the function of which is to protect against damage mediated by free radicals deriving from oxygen. Its pathophysiological mechanism in ALS1 is related to ischemia. Several molecular studies of the SOD1 gene show that point mutations are the most frequent. The most common mutations in familial cases are p.A4V, p.I113Y, p.G37R, p.D90A and p.E100G, which account for more than 80% of cases, although intronic mutations have also been described as responsible for ALS1. Sporadic cases are explained by mutations in other genes such as SETX and C9orf72. ALS1 is a complex disease with genetic heterogeneity. On the other hand, familial and sporadic cases have a different etiology, which is explained by molecular heterogeneity and multiple pathogenic mechanisms that lead to ALS1; oxidative stress and ischemia are not the only cause. In Mexico, ALS molecular genetics studies are scarce. Clinical studies show an increase in cytokines such as adipsin in cerebrospinal fluid.

Aproximación genética en la esclerosis lateral amiotrófica.

The superoxide dismutase type 1 (SOD1) gene is the first responsible gene mapped in amyotrophic lateral sclerosis type 1 (ALS1), and it codes for the enzyme SOD1, the function of which is to protect against damage mediated by free radicals deriving from oxygen. Its pathophysiological mechanism in ALS1 is related to ischemia. Several molecular studies of the SOD1 gene show that point mutations are the most frequent. The most common mutations in familial cases are p.A4V, p.I113Y, p.G37R, p.D90A and p.E100G, which account for more than 80% of cases, although intronic mutations have also been described as responsible for ALS1. Sporadic cases are explained by mutations in other genes such as SETX and C9orf72. ALS1 is a complex disease with genetic heterogeneity. On the other hand, familial and sporadic cases have a different etiology, which is explained by molecular heterogeneity and multiple pathogenic mechanisms that lead to ALS1; oxidative stress and ischemia are not the only cause. In Mexico, ALS molecular genetics studies are scarce. Clinical studies show an increase in cytokines such as adipsin in cerebrospinal fluid.

El gen SOD1 es el primer gen responsable mapeado en la esclerosis lateral amiotrófica tipo 1 (ELA1) y codifica para la enzima superóxido dismutasa tipo 1 (SOD1), cuya función es proteger del daño mediado de los radicales libres derivados del oxígeno; su mecanismo fisiopatológico en ELA1 se relaciona con isquemia. Diversos estudios moleculares del gen SOD1 muestran que las mutaciones puntuales son las más frecuentes. Las mutaciones más comunes en los casos familiares son p.A4V, p.I113Y, p.G37R, p.D90A y p.E100G, que explican más de 80 % de los casos, aunque también se han descrito mutaciones intrónicas como responsables de esclerosis lateral amiotrófica tipo 1. Los casos esporádicos se explican por mutaciones en otros genes como SETX y C9orf72. ELA1 es una enfermedad compleja con heterogeneidad genética. Por otra parte, los casos familiares y esporádicos tienen etiología distinta, lo cual se explica por la heterogeneidad molecular y múltiples mecanismos patogénicos que conducen a ELA1; el estrés oxidativo y la isquemia no son la única causa. En México son escasos los estudios de genética molecular de esclerosis lateral amiotrófica. Los estudios clínicos muestran incremento de citocinas como la adipsina en el líquido cefalorraquídeo.

Epidemiología genética sobre las teorías causales y la patogénesis de la diabetes mellitus tipo 2.

Diabetes mellitus type 2 (DM2) is a worldwide public health problem. The etiology of the disease is multifactorial and is characterized by great heterogeneity of metabolic disorders. The most common are the insufficient production of insulin, insulin resistance and impaired incretin system. The specialist must understand the multi-causal nature of DM2 in the post-genomic era. This nature is determined by the additive effect of genes and environment, so there is no simple genetic epidemiological model to explain the inheritance pattern. Hence the need to establish the proportion of disease that is determined by genes and the contribution of environmental factors, the combination of which regulates the threshold or tolerance level for diabetes development. Given this complexity in DM2 in this work are discussed the various existing theories of causality of this disease, which will permit us to understand the interaction between the environment and the human genome, and also to know how risk factors or predisposition to this disease influence, laying the grounds that delimit environment interaction with the genome.

[(CAG)n polymorphism of the ATXN2 gene, a new marker of susceptibility for type 2 diabetes mellitus]. / El polimorfismo (CAG)n del gen ATXN2, nuevo marcador de susceptibilidad para diabetes mellitus tipo 2.

OBJECTIVE: Estimate whether there is an association between the (CAG)n repeat in the ATXN2 gene in the Mexican population and type 2 diabetes mellitus (DM). METHODS: Epidemiological case-control study, including healthy people and diabetics. (CAG)n expansion was detected by end-point polymerase chain reaction (PCR). PCR outputs were analyzed by electrophoresis (PAGE 8%) and silver nitrate staining. RESULTS: (CAG)n nucleotide allele distribution in the study population was similar to that reported in central Mexico. The 22-repeat allele is the most frequent; however, there is an association with carriers of long repeats in the normal range with diabetes. CONCLUSIONS: The results suggest that the (CAG)n repeat of the ATXN2 gene could be a causal factor for type 2 DM.

Improving the Shelf Life of Avocado Fruit against Clonostachys rosea with Chitosan Hybrid Films Containing Thyme Essential Oil.

Hass avocadoes are one of the most popular fruits consumed worldwide because of their nutritional and nutraceutical content. Nevertheless, these fruits are susceptible to phytopathogen attacks that decrease fruit quality during the postharvest period. Herein we present the results of the in situ fungistatic activity of four hybrid films (FT1−FT4) manufactured with chitosan and different concentrations of the essential oil of thyme (TvEO). The films were evaluated as biodegradable materials to prevent fruit decay triggered by Clonostachys rosea which is considered an emergent phytopathogen of this crop. The in situ fungistatic strength, spectroscopic properties (FT-IR), optical features (transmittance/opacity), and consistency obtained by microscopic analysis (SEM), indicated that the films FT3 and FT4 possessed the best physicochemical properties to protect Hass avocadoes against the soft rot produced by C. rosea. Avocadoes treated with the films FT3 and FT4 significantly (p < 0.01) conserved fruit firmness and nutritional composition (protein, fat, fiber, and reducing sugars) as well as the nutraceutical content (oleic, palmitoleic, linoleic, and palmitic acids) of infected avocados for 21 days. Our results validate the potential use of the films FT3 and FT4 to prevent the soft rot caused by C. rosea and to improve the shelf life of Hass avocadoes.

VNTR (CAG)n polymorphism of the ATXN2 gene and metabolic parameters of cardiovascular risk associated with the degree of obesity in the Amerindian population of Oaxaca.

INTRODUCTION: The ATXN2 gene has a VNTR (CAG)n with locus in exon1. Long alleles within the normal range (22-29 repeats) are associated with severe obesity in people from the United Kingdom, Indonesia and the Caribbean. OBJECTIVE: To analyse the influence of VNTR (CAG)n on metabolic profile in adults with obesity and pre-obesity, as well as to estimate its effect on the risk of developing diabetes. METHODS AND MATERIAL: 255 adults of Chinantec Amerindian ethnic origin were included, who underwent anthropometric and biochemical evaluation. The VNTR was amplified by end-point PCR and by 8% PAGE electrophoresis. RESULTS: Differences were found in the waist/hip circumference index and body mass index in the carriers of genotypes different to the one homozygous for 22 repeats with a Student's t-test value of 0.0041 and 0.0334, respectively. We also found an association with a family history of chronic disease. CONCLUSION: The VNTR of ATXN2 is associated with obesity in Mexican adults of Chinantec ancestry.

Association between nutritional risk markers and polymorphisms rs2291166 in TJP1 and VNTR (CAG)n in ATXN2 in an obese adolescent Mexican population. / Asociación entre marcadores de riesgo nutricionales con los polimorfismos rs2291166 de TJP1 y el VNTR (CAG)n de ATXN2 en población mexicana adolescente con obesidad.

OBJECTIVE: To estimate the correlation between indices of diet quality (DQIs), insulin sensitivity (QUICKI) and resistance (HOMA-IR), waist circumference (WHR) and body mass (BMI) and the alleles and genotypes of the TJP1 SNP rs2291166 and the VNTR of ATXN2 in adolescent patients. SUBJECTS AND METHOD: The study enrolled 85 subjects aged 10-20years, from the city of Tuxtepec, Oaxaca, Mexico, recruited in the period 2017-2018. DQIs, BMI, WHR, HOMA-IR, QUICKI, and diet quality index were measured. The rs2291166 polymorphism in TJP1 was determined by allele-specific PCR and the (CAG)n expansion in ATXN2 was determined by hot start PCR. PCR products were analyzed using 8% PAGE electrophoresis and silver nitrate staining. RESULTS: A correlation was found of indices DQIs, HOMA-IR, WHR and BMI with the heterozygous genotype of the TJP1 SNP rs2291166 and the long and short repeats of the ATXN2 CAG repeat in obese adolescent patients. A very strong positive correlation was seen between the TJP1 SNP and the HOMA-IR index (P<.05). A positive correlation was also found between the ATXN2 CAG repeat and the QUICKI index (P=.000) (P<.05), while the DQIs index correlated more closely with BMI and WHR. CONCLUSIONS: DQIs, TJP1 SNP rs2291166, and ATXN2 CAG repeat are determinants of obesity-related risk parameters such as BMI, WHR, QUICKI, and HOMA-IR in the adolescent population analyzed.

VNTR (CAG)n polymorphism of the ATXN2 gene and metabolic parameters of cardiovascular risk associated with the degree of obesity in the Amerindian population of Oaxaca. / Polimorfismo VNTR (CAG)n del gen ATXN2 y parámetros metabólicos de riesgo cardiovascular asociados con el grado de obesidad en población amerindia de Oaxaca.

INTRODUCTION: The ATXN2 gene has a VNTR (CAG)n with locus in exon1. Long alleles within the normal range (22-29 repeats) are associated with severe obesity in people from the United Kingdom, Indonesia and the Caribbean. OBJECTIVE: To analyse the influence of VNTR (CAG)n on metabolic profile in adults with obesity and pre-obesity, as well as to estimate its effect on the risk of developing diabetes. METHODS AND MATERIAL: 255 adults of Chinantec Amerindian ethnic origin were included, who underwent anthropometric and biochemical evaluation. The VNTR was amplified by end-point PCR and by 8% PAGE electrophoresis. RESULTS: Differences were found in the waist/hip circumference index and body mass index in the carriers of genotypes different to the one homozygous for 22 repeats with a Student's t test value of 0.0041 and 0.0334, respectively. We also found an association with a family history of chronic disease. CONCLUSION: The VNTR of ATXN2 is associated with obesity in Mexican adults of Chinantec ancestry.

[The metabolic and molecular bases of Cockayne syndrome]. / Las bases metabólicas y moleculares del síndrome de Cockayne.

Cockayne is a segmental progeroid syndrome that has autosomal recessive inheritance pattern. It is mainly characterized by Intrauterine growth retardation, severe postnatal growth deficiency, cachectic dwarfism, microcephaly, wizened face, sensorineural hearing loss, cataracts, dental caries, cardiac arrhythmias, hypertension, atherosclerosis, proteinuria, micropenis, renal failure, skeletal abnormalities, skin photosensitivity, decreased subcutaneous adipose tissue, cerebral atrophy, dementia, basal ganglia calcifications, ataxia and apraxia. It has a complex phenotype given by genetic heterogeneity. There are five gene responsible for this syndrome: CSA, CSB, XPB, XPD and XPG, in which various mutations have been found. The biochemical effect of these mutations includes dysfunctional protein of the repair system for oxidative damage to DNA, the complex coupled to transcription and the nucleotide excision repair system. Considering the role played for these proteins and its effects on clinical phenotype when they are deficient, we suggest that these genes might be candidates for analyzing susceptibility to common chronic degenerative diseases related to oxidative stress and aging.

[Type 2 diabetes nephropathy: a thresholds complex trait and chromosomal morbid map]. / Nefropatía por diabetes mellitus tipo 2: un rasgo multifactorial con umbral y su mapa mórbido cromosómico.

Type 2 diabetes nephropathy is a multifactorial trait whose threshold or limit for the phenotypic expression depends on the additive effect of multiple loci and environmental factors that are specific to each population. After the sequencing of human genome more susceptibility loci through linkage studies and association have been found. The association studies showed involvement 69 loci, whereas genetic linkage studies involved 24 loci. Among environmental factors, genetically unknown foods and excessive consumption of beverages with sweeteners has been reported. However, despite wide evidence in the genetic component in the development of kidney damage, the environment participation is not evident in several perinatal studies. One of the approaches proposed given the genetic heterogeneity that influences nephropathy, are epistasis studies, which will become increasingly important in the upcoming years.

New subtype of familial achondrogenesis type IA (Houston-Harris).

BACKGROUND: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death. Based on the radiological and histopathological findings, there are three types of achondrogenesis: type 1A (Houston-Harris), type 1B (Fraccaro) and type 2 (Langer-Saldino). CLINICAL CASE: A premature female product was studied whose clinical, radiological and histopathological characteristics were compatible with achondrogenesis Type 1A. The family information allowed us to conclude that the 4 products of the 6 previous pregnancies were affected. Statistical analysis in at least 4 families previously described, including this family case showed significant differences between expected and observed number of members, being incongruent with an autosomal recessive mode of inheritance previously reported. CONCLUSIONS: therefore, it could be considered a new subtype of achondrogenesis type 1A due to the presence of a preferential germline mutation.

INTRODUCCIÓN: La acondrogénesis es una displasia esquelética que se caracteriza principalmente por talla baja, micromelia grave, tórax corto y estrecho, prematurez, polihidramnios, hidropesía fetal y muerte fetal in utero o neonatal. Según los hallazgos radiológicos e histopatológicos existen tres tipos de acondrogénesis: tipo 1A (Houston-Harris), tipo 1B (Fraccaro) y tipo 2 (Langer-Saldino). CASO CLÍNICO: Se sometió a estudio a un producto femenino prematuro cuyas características clínicas, radiológicas e histopatológicas fueron compatibles con acondrogénesis tipo 1A. La información familiar permitió concluir que los cuatro productos de los seis embarazos previos se encontraban afectados. El análisis estadístico en por lo menos cuatro familias previamente descritas, incluyendo este caso familiar, mostró diferencias significativas entre el número de miembros esperado y el observado, siendo incongruente con el modo de herencia autosómico recesivo previamente reportado. CONCLUSIONES: Podría considerarse un nuevo subtipo de acondrogénesis tipo 1A debida a la presencia de una mutación germinal preferencial.

Bioética en contextos pluriculturales: problemas epistemológicos y su relación con los derechos humanos / Bioètica en contextos pluriculturals: problemes epistemològics ila seva relació amb els drets humans / Bioethics in pluricultural contexts: Epistemological problems and their relationship with Human Rights

El objetivo de la investigación es identificar los problemas epistemológicos que surgen en el conocimiento y praxis de la Bioética en contextos pluriculturales y multiétnicos como es la Sierra Sur de Oaxaca México, y determinar su relación con los derechos humanos específicamente con elEnfoque de salud basado en los Derechos Humanos (EBDH). El método es el realismo epistemológico pragmático de Jürgen Habermas. Los resultados muestran dos tipos de problemas: el primero, es el tipo derelación sujeto-objeto de conocimiento en el que el Otro es subjetivado comoobjeto einstrumentalizado; y el segundo, el reduccionismo metodológico y por tanto las formas de verificación de las proposiciones verdaderas. Por cuanto hace a los derechos humanos vinculados a los problemas epistemológicos son principalmente colectivos y secundariamente individuales,en tanto que el proceso de conocimiento es un fenómeno social, comunal e histórico. Concluimos que la pluriculturalidad es un fenómeno que complejiza y enriquece la labor de la Bioética con una realidad múltiple de tipo sensible, inteligible y valorativo, este nexo muestra la necesidad de desarrollar abordajes inter o transdisciplinarios que aminoren tanto los problemas epistemológicos como la incidencia en la violación de derechos humanos.(AU)

L'objectiu de la recerca és identificar els problemes epistemològics que sorgeixen en el coneixement i la praxi de la Bioètica en contextos pluriculturals i multiètnics com és la Serra Sud d'Oaxaca Mèxic, i determinar la seva relació amb els drets humans específicament amb l'Enfocament de salut basat en els Drets Humans (EBDH). El mètode és el realisme epistemològic pragmàtic de Jürgen Habermas. Els resultats mostren dos tipus de problemes: el primer és el tipus de relació subjecte-objecte de coneixement en què l'Altre és subjectivat com a objecte i instrumentalitzat; i el segon, el reduccionisme metodològic i, per tant, les formes de verificació de les proposicions veritables. Pel que fa alsdrets humans vinculats als problemes epistemològics, són principalment col·lectius i secundàriament individuals, en tant que el procés de coneixement és un fenomen social, comunal i històric. Concloem que la pluriculturalitat és un fenomen que complexitzai enriqueix la tasca de la Bioètica amb una realitat múltiple de tipus sensible, intel·ligible i valoratiu, aquest nexe mostra la necessitat de desenvolupar abordatges inter o transdisciplinaris que aminorin tant els problemes epistemològics com la incidència en la violació de drets humans.(AU)

The objective of the research is to identify the epistemological problems that arise in the knowledge and praxis of Bioethics in pluricultural and multiethnic contexts such as the Sierra Sur of Oaxaca, Mexico, and to determine their relationship with human rights, specifically with the Human Rights Based Health Approach (HRBA). The method is the pragmatic epistemological realism of Jürgen Habermas. The results show two types of problems: the first is the type of subject-object relationship of knowledge in which the Other is subjectivized as an object and instrumentalized; and the second is the methodological reductionism and therefore the forms of verification of true propositions. As far as human rights linked to epistemological problems are concerned, they are mainly collective and secondarily individual, while the process of knowledge is a social, communal and historical phenomenon. We conclude that pluriculturality is a phenomenon that complexifies and enriches the work of Bioethics with a multiple reality of sensitive, intelligible and valuative type, this nexus shows the need to develop inter or transdisciplinary approaches that lessen both epistemological problems and the incidence in the violation of human rights.(AU)

New subtype of familial achondrogenesis type IA (Houston-Harris). / Nuevo subtipo de acondrogénesis familiar tipo IA (Houston-Harris)

Background: Achondrogenesis is a skeletal dysplasia characterized primarily by short stature, severe micromelia, short and narrow chest, prematurity, polyhydramnios, fetal hydrops, and in utero or neonatal death. Based on the radiological and histopathological findings, there are three types of achondrogenesis: type 1A (Houston-Harris), type 1B (Fraccaro) and type 2 (Langer-Saldino). Clinical case: A premature female product was studied whose clinical, radiological and histopathological characteristics were compatible with achondrogenesis Type 1A. The family information allowed us to conclude that the 4 products of the 6 previous pregnancies were affected. Statistical analysis in at least 4 families previously described, including this family case showed significant differences between expected and observed number of members, being incongruent with an autosomal recessive mode of inheritance previously reported. Conclusions: therefore, it could be considered a new subtype of achondrogenesis type 1A due to the presence of a preferential germline mutation.

Introducción: La acondrogénesis es una displasia esquelética que se caracteriza principalmente por talla baja, micromelia grave, tórax corto y estrecho, prematurez, polihidramnios, hidropesía fetal y muerte fetal in utero o neonatal. Según los hallazgos radiológicos e histopatológicos existen tres tipos de acondrogénesis: tipo 1A (Houston-Harris), tipo 1B (Fraccaro) y tipo 2 (Langer-Saldino). Caso clínico: Se sometió a estudio a un producto femenino prematuro cuyas características clínicas, radiológicas e histopatológicas fueron compatibles con acondrogénesis tipo 1A. La información familiar permitió concluir que los cuatro productos de los seis embarazos previos se encontraban afectados. El análisis estadístico en por lo menos cuatro familias previamente descritas, incluyendo este caso familiar, mostró diferencias significativas entre el número de miembros esperado y el observado, siendo incongruente con el modo de herencia autosómico recesivo previamente reportado. Conclusiones: Podría considerarse un nuevo subtipo de acondrogénesis tipo 1A debida a la presencia de una mutación germinal preferencial.

[High frequency of ancestral allele of the TJP1 polymorphism rs2291166 in Mexican population, conformational effect and applications in surgery and medicine]. / Alta frecuencia del alelo ancestral del polimorfismo rs2291166 de TJP1 en población mexicana, efecto conformacional así como las aplicaciones en cirugía y medicina.

BACKGROUND: TJP1 gene encodes a ZO-1 protein that is required for the recruitment of occludins and claudins in tight junction, and is involved in cell polarisation. It has different variations, the frequency of which has been studied in different populations. In Mexico there are no studies of this gene. These are required because their polymorphisms can be used in studies associated with medicine and surgery. Therefore, the aim of this study was to estimate the frequency of alleles and genotypes of rs2291166 gene polymorphism TJP1 in Mexico Mestizos population, and to estimate the conformational effect of an amino acid change. MATERIAL AND METHODS: A total of 473 individuals were included. The rs2291166 polymorphism was identified PASA PCR-7% PAGE, and stained with silver nitrate. The conformational effect of amino acid change was performed in silico, and was carried out with servers ProtPraram Tool and Search Database with Fasta. RESULTS: The most frequent allele in the two populations is the ancestral allele (T). A genotype distribution similar to other populations was found. The polymorphism is in Hardy-Weinberg, p>0.05. Changing aspartate to alanine produced a conformational change. CONCLUSIONS: The study reveals a high frequency of the ancestral allele at rs2291166 polymorphism in the Mexican population.

Ataxina-2, nuevo blanco en enfermedades genéticas complejas / Ataxin-2, a new target in complex genetic diseases

Resumen El gen de la ataxina-2 es un blanco en la patogénesis de enfermedades complejas, entre ellas los factores de riesgo cardiovascular y enfermedades neurodegenerativas. El gen ATXN2 tiene un VNTR en el exón 1, cuya expansión por encima de las 30 repeticiones provoca al desarrollo de ataxia espinocerebelosa tipo 2; las repeticiones en rango menor se asocian con diabetes tipo 2 o esclerosis lateral amiotrófica. También este locus está ligado con fenotipos metabólicos e inflamatorios. En conclusión, el gen puede ser utilizado como marcador clínico de fenotipos metabólicos y neurológicos, lo cual está relacionado con su efecto pleiotrópico.

Abstract The ataxin 2 gene is a target in the pathogenesis of complex diseases, including cardiovascular risk factors and neurodegenerative diseases. ATXN2 gen has VNTR in exon 1, whose expansion exceeding 30 repetitions leads to the development of spinocerebellar ataxia type 2; lower-range repetitions are associated with type 2 diabetes or amyotrophic lateral sclerosis. This locus is also linked with metabolic and inflammatory phenotypes. In conclusion, this gene can be used as a clinical marker of metabolic and neurological phenotypes, which is related to its pleiotropic effect.