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1.
Artigo em Inglês | MEDLINE | ID: mdl-36429454

RESUMO

Suicide attempts are an emerging health problem around the world. Increased levels of IL-6 have been associated with suicidal behavior. Therefore, the aims of this study were to evaluate the serum levels of IL-6 in individuals with suicide attempts and a comparison group and to associate the IL-6 levels with the lethality of the suicide attempt. Additionally, we associated the rs2228145 polymorphism of the IL6R gene with suicide attempts or with the IL-6 serum levels. Suicide attempts and their lethality were evaluated using the Columbia Suicide Severity Rating Scale. The serum concentrations of IL-6 were measured by the ELISA technique in individuals with suicide attempts and then compared to a control group. The rs2228145 polymorphism of the IL6R gene was analyzed by real-time polymerase chain reaction. We found elevated serum levels of IL-6 in the suicide attempt group when compared to the control group (F = 10.37, p = 0.002). However, we found no differences of the IL-6 levels between high and low lethality. The IL6R gene polymorphism rs2479409 was not associated with suicide attempts. Our data suggest that IL-6 serum is increased in individuals with suicide attempts.


Assuntos
Interleucina-6 , Tentativa de Suicídio , Humanos , Estudos de Casos e Controles , Interleucina-6/genética , Ideação Suicida
2.
Eur J Med Genet ; 63(8): 103955, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32473228

RESUMO

Prader-Willi syndrome (PWS) is one of the common neurogenetic disorders associated with intellectual disability. PWS involves a complex inheritance pattern and is caused by an absence of gene expression on the paternally inherited 15q11.2-q13 region, either due to deletion, maternal uniparental disomy or imprinting defect. The syndrome is characterized principally by severe neonatal hypotonia, a weak suck in infancy that is later followed by hyperphagia and obesity, developmental delay, intellectual disability and short stature. In the case of the chromosome 15q26-qter deletion syndrome or Drayer's syndrome, very few reports have been published. Its characteristics include intrauterine growth restriction, postnatal growth failure, varying degrees of intellectual disability, developmental delay, typical facial appearance and diaphragmatic hernia. The present paper describes a female patient in whom clinical findings were suggestive of PWS and deletion in the 15q26-qter region. Both karyotyping and methylation-specific polymerase chain reaction were shown to be normal. Nevertheless, fluorescence in situ hybridization showed a 15qter deletion that was later mapped by single nucleotide polymorphism (SNP)-array. The deleted genomic region involves the insulin-like growth factor-1 receptor (IGF1R) gene, which is related to short stature, developmental delay and intellectual disability. This case had various clinical characteristics in common with the cases of 15q26-qter deletionand characteristics compatible with PWS.


Assuntos
Anormalidades Múltiplas/genética , Transtornos do Crescimento/genética , Deficiência Intelectual/genética , Microcefalia/genética , Síndrome de Prader-Willi/genética , Anormalidades Múltiplas/patologia , Feminino , Transtornos do Crescimento/patologia , Humanos , Deficiência Intelectual/patologia , Microcefalia/patologia , Fenótipo , Síndrome de Prader-Willi/patologia , Receptor IGF Tipo 1/genética , Adulto Jovem
3.
Rev. bras. ciênc. avic ; 21(3): eRBCA, 2019. ilus, tab
Artigo em Inglês | VETINDEX | ID: biblio-1490669

RESUMO

The melanocortin 1 receptor (MC1R) gene plays a key role in controlling the deposition of melanin. In mammals, the MC1Rgene is regarded as a major candidate gene in the control of melanin formation. In domestic animals, the MC1R gene mainly controls the expression of coat, skin, and plumage color in mammals and birds. In order to breed chickens with dark-green shank faster, we screened the molecular markers for shank color in a HS chicken population by exploring the relationship between polymorphism of the MC1R gene and three different shank colors (light green, dark green and yellow). Two primer pairs for code region of the MC1R gene were designed in the basic of chicken genomic sequence. DNA sequencing was performed to detect the polymorphisms and PCR was used to amplify DNA fragment. Sequences analysis indicated that 7 SNPs were predominant the three HS chicken populations with different shank color, including g.18,287,945C>T, g.18,288,088T>C, g.18,288,150G>A, g.18,288,303A>G, g.18,288,512G>A, g.18,288,513T>C, and g.18,288,520A>C. Association analysis revealed that the dark-green shank population showed moderate polymorphism, whereas the light-green shank population showed low polymorphism among overall 7 SNPs and that SNP6 (g.18,288,513T>C) may be significantly associated with three different shank colors in HS chickens. The haplotype CTGGACA had the largest haplotype frequencies, accounting for 56.22%, and the haplotype combination H1H1 is mainly distributed in the dark-green shank population, and may be used as molecular maker for marker-assisted selection of shank color in HS chickens.


Assuntos
Feminino , Animais , Galinhas/imunologia , Galinhas/metabolismo , Polimorfismo Genético/genética , Receptor Tipo 1 de Melanocortina/análise , Receptor Tipo 1 de Melanocortina/química
4.
R. bras. Ci. avíc. ; 21(3): eRBCA-2018-0845, 2019. ilus, tab
Artigo em Inglês | VETINDEX | ID: vti-25833

RESUMO

The melanocortin 1 receptor (MC1R) gene plays a key role in controlling the deposition of melanin. In mammals, the MC1Rgene is regarded as a major candidate gene in the control of melanin formation. In domestic animals, the MC1R gene mainly controls the expression of coat, skin, and plumage color in mammals and birds. In order to breed chickens with dark-green shank faster, we screened the molecular markers for shank color in a HS chicken population by exploring the relationship between polymorphism of the MC1R gene and three different shank colors (light green, dark green and yellow). Two primer pairs for code region of the MC1R gene were designed in the basic of chicken genomic sequence. DNA sequencing was performed to detect the polymorphisms and PCR was used to amplify DNA fragment. Sequences analysis indicated that 7 SNPs were predominant the three HS chicken populations with different shank color, including g.18,287,945C>T, g.18,288,088T>C, g.18,288,150G>A, g.18,288,303A>G, g.18,288,512G>A, g.18,288,513T>C, and g.18,288,520A>C. Association analysis revealed that the dark-green shank population showed moderate polymorphism, whereas the light-green shank population showed low polymorphism among overall 7 SNPs and that SNP6 (g.18,288,513T>C) may be significantly associated with three different shank colors in HS chickens. The haplotype CTGGACA had the largest haplotype frequencies, accounting for 56.22%, and the haplotype combination H1H1 is mainly distributed in the dark-green shank population, and may be used as molecular maker for marker-assisted selection of shank color in HS chickens.(AU)


Assuntos
Animais , Feminino , Galinhas/imunologia , Galinhas/metabolismo , Receptor Tipo 1 de Melanocortina/análise , Receptor Tipo 1 de Melanocortina/química , Polimorfismo Genético/genética
5.
Obes Facts ; 11(6): 440-453, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30537704

RESUMO

OBJECTIVE: This study evaluated the effect of a protein, the isolated Trypsin Inhibitor (TTI) from Tamarindus indica L. seed, as a CCK secretagogue and its action upon food intake and leptin in obese Wistar rats. METHODS: Three groups of obese rats were fed 10 days one of the following diets: Standard diet (Labina®) + water; High Glycemic Index and Load (HGLI) diet + water or HGLI diet + TTI. Lean animals were fed the standard diet for the 10 days. Food intake, zoometric measurements, plasma CCK, plasma leptin, relative mRNA expression of intestinal CCK-related genes, and expression of the ob gene in subcutaneous adipose tissue were assessed. RESULTS: TTI decreased food intake but did not increase plasma CCK in obese animals. On the other hand, TTI treatment decreased CCK-1R gene expression in obese animals compared with the obese group with no treatment (p = 0.027). Obese animals treated with TTI presented lower plasma leptin than the non-treated obese animals. CONCLUSION: We suggest that TTI by decreasing plasma leptin may improve CCK action, regardless of its increase in plasma from obese rats, since food intake was lowest.


Assuntos
Depressores do Apetite/farmacologia , Ingestão de Alimentos/efeitos dos fármacos , Leptina/sangue , Obesidade , Proteínas de Vegetais Comestíveis/farmacologia , Receptores da Colecistocinina/genética , Tamarindus/química , Animais , Depressores do Apetite/isolamento & purificação , Depressores do Apetite/uso terapêutico , Regulação para Baixo/efeitos dos fármacos , Expressão Gênica/efeitos dos fármacos , Masculino , Obesidade/sangue , Obesidade/tratamento farmacológico , Obesidade/genética , Proteínas de Vegetais Comestíveis/isolamento & purificação , Ratos , Ratos Wistar , Receptores da Colecistocinina/metabolismo , Resposta de Saciedade/efeitos dos fármacos , Sementes/química
6.
Front Plant Sci ; 8: 205, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28261255

RESUMO

The identification of host genes associated with resistance to Phytophthora capsici is crucial to developing strategies of control against this oomycete pathogen. Since there are few sources of resistance to P. capsici in crop plants, non-host plants represent a promising source of resistance genes as well as excellent models to study P. capsici - plant interactions. We have previously shown that non-host resistance to P. capsici in Nicotiana spp. is mediated by the recognition of a specific P. capsici effector protein, PcAvr3a1 in a manner that suggests the involvement of a cognate disease resistance (R) genes. Here, we have used virus-induced gene silencing (VIGS) and transgenic tobacco plants expressing dsRNA in Nicotiana spp. to identify candidate R genes that mediate non-host resistance to P. capsici. Silencing of members of the I2 multigene family in the partially resistant plant N. edwardsonii and in the resistant N. tabacum resulted in compromised resistance to P. capsici. VIGS of two other components required for R gene-mediated resistance, EDS1 and SGT1, also enhanced susceptibility to P. capsici in N. edwardsonii, as well as in the susceptible plants N. benthamiana and N. clevelandii. The silencing of I2 family members in N. tabacum also compromised the recognition of PcAvr3a1. These results indicate that in this case, non-host resistance is mediated by the same components normally associated with race-specific resistance.

7.
Curr Protein Pept Sci ; 18(4): 294-310, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-27455974

RESUMO

Plants exhibit sensitive mechanisms to respond to environmental stresses, presenting some specific and non-specific reactions when attacked by pathogens, including organisms from different classes and complexity, as viroids, viruses, bacteria, fungi and nematodes. A crucial step to define the fate of the plant facing an invading pathogen is the activation of a compatible Resistance (R) gene, the focus of the present review. Different aspects regarding R-genes and their products are discussed, including pathogen recognition mechanisms, signaling and effects on induced and constitutive defense processes, splicing and post transcriptional mechanisms involved. There are still countless challenges to the complete understanding of the mechanisms involving R-genes in plants, in particular those related to the interactions with other genes of the pathogen and of the host itself, their regulation, acting mechanisms at transcriptional and post-transcriptional levels, as well as the influence of other types of stress over their regulation. A magnification of knowledge is expected when considering the novel information from the omics and systems biology.


Assuntos
Proteínas de Arabidopsis/imunologia , Resistência à Doença/genética , Regulação da Expressão Gênica de Plantas/imunologia , Genoma de Planta , Doenças das Plantas/imunologia , Plantas/genética , Proteínas de Arabidopsis/genética , Mapeamento Cromossômico , Etilenos/biossíntese , Etilenos/imunologia , Dosagem de Genes , Interações Hospedeiro-Patógeno/genética , Interações Hospedeiro-Patógeno/imunologia , Doenças das Plantas/genética , Imunidade Vegetal/genética , Proteínas de Plantas/genética , Proteínas de Plantas/imunologia , Plantas/microbiologia , Plantas/parasitologia , Plantas/virologia , Isoformas de Proteínas/genética , Isoformas de Proteínas/imunologia , Espécies Reativas de Oxigênio/imunologia , Espécies Reativas de Oxigênio/metabolismo , Transdução de Sinais
8.
Braz. arch. biol. technol ; Braz. arch. biol. technol;59(spe): e16160500, 2016. tab, graf
Artigo em Inglês | LILACS | ID: lil-796855

RESUMO

ABSTRACT A loop-mediated isothermal amplification (LAMP) assay was developed for rapid, sensitive and specific detection of African swine fever virus (ASFV). A set of LAMP primers was designed based on the sequence of the ASFV gene K205R. Reaction temperature and time were optimized to 64 oC and 60 min, respectively. LAMP products were detected by agarose gel electrophoresis or visually with the addition of fluorescent dye. The detection limit of the LAMP assay was approximately 6 copies of the target gene per microliter, 100 times more sensitive than conventional PCR. LAMP is a simple and inexpensive molecular assay format for ASFV detection. To date, African swine fever has not been reported in China. LAMP can be used to monitor ASFV spread into China, thereby reducing the threat of ASF.

9.
Int Forum Allergy Rhinol ; 5(2): 111-8, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25532854

RESUMO

BACKGROUND: The bitter taste receptor T2R38, expressed in the tongue and nasal epithelium, has been shown to trigger sinonasal innate immunity contributing to the prevention of gram-negative upper airway bacterial infections. Common polymorphisms of the T2R38 gene, correlating with bitter taste sensitivity to phenylthiocarbamide (PTC), have been linked to differences in sinonasal innate immune response, with specific genotypes significantly more common in medically recalcitrant chronic rhinosinusitis patients. The purpose of this study was to examine this association between T2R38 function and sinonasal infection or symptoms in a healthy population. METHODS: A survey of the frequency of sinus infections, as well as other nasal symptoms such as colds, allergies, and overall nasal quality of life (nQOL), was administered to healthy adult participants. nQOL was measured using a 0 to 3 scale of worsening symptoms. A PTC compound taste strip was administered with T2R38 taste sensitivity classified as extremely, somewhat, or not sensitive. RESULTS: Among 217 participants (55% female, 70% Caucasian, 42% age 21 to 25 years), 30% did not detect bitterness (nontasters), 34% were moderate tasters, and 36% were "supertasters," experiencing a strong, unpalatable bitterness. Supertasters were associated with less frequent sinus infections (p = 0.04), and PTC sensitivity was predictive of nasal symptoms: Supertasters had the best nQOL scores, followed by moderate tasters and nontasters (means: 0.65, 0.81, 1.00, respectively; p = 0.014 for trend). There were no significant associations with other variables. CONCLUSION: This study provides evidence that T2R38 functionality in the tongue correlates with nasal symptoms in healthy individuals.


Assuntos
Feniltioureia , Rinite/diagnóstico , Sinusite/diagnóstico , Paladar/fisiologia , Adolescente , Adulto , Idoso , Feminino , Voluntários Saudáveis , Humanos , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , Receptores Acoplados a Proteínas G/metabolismo , Infecções Respiratórias/diagnóstico , Adulto Jovem
10.
Artigo em Espanhol | LILACS-Express | LILACS, LIPECS | ID: biblio-1522384

RESUMO

Una de las opciones para el control de la enfermedad del tizón tardío de la papa es el desarrollo de variedades resistentes a Phytophthora infestans mediante la transferencia directa de genes de resistencia (R) por ingeniería genética. En el siguiente trabajo de investigación, se usó el gen RB de Solanum bulbocastanum, el cual otorga un amplio espectro de resistencia a razas de P. infestans. Para dicho fin, se transformó genéticamente vía Agrobacterium la variedad susceptible de papa Desiree (Solanum tuberosum) con el vector binario pCIP68 que contiene el gen RB. Como resultado, se obtuvieron 19 plantas transformadas con el gen RB, confirmadas por la prueba de resistencia a kanamicina y por la prueba de reacción en cadena de la polimerasa (PCR). Las 19 plantas transgénicas fueron sometidas a infección en invernadero bajo condiciones de bioseguridad con el aislamiento POX067 de P. infestans perteneciente al linaje clonal EC-1 que es dominante en el Perú. Tres de las 19 plantas ([RB]54, [RB]56 y [RB]70) presentaron un alto nivel de resistencia al aislamiento POX067 de P. infestans.


One of the most efficient options for the control of late blight disease in potato (Solanum tuberosum) is the development of resistant varieties to Phytophthora infestans mediated by the direct transfer of resistance (R) genes through genetic engineering. In the present work, we used Solanum bulbocastanum RB gene to confers broad spectrum resistance to P. infestans races. To that end, Agrobacterium - mediated genetic transformation was used to transform a susceptible potato variety, Desiree, with the binary vector pCIP68 harboring the RB gene. As a result, 19 transformed plants containing the RB gene were obtained. kanamycin resistance test and polymerase chain reaction (PCR) assays confirmed the integration of the T-DNA in the potato genome. The 19 transformed plants, also called transgenic events were subjected to infection under biosafety greenhouse conditions. Phytophthora infestans isolate POX067 of the EC-1 clonal lineage, commonly find in Peru, was used for the infection. Three of the 19 plants ([RB]54, [RB]56 and [RB]70) show high resistance levels to isolate POX067 of P. infestans.

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