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Background: Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms have been associated with overweight people and obesity. The goal of this study was to investigate the relationship of the MTHFR 677C>T polymorphism with obesity and biochemical variables in young individuals of Mexico. Methods: A total of 316 young individuals were included in the study, 172 with normal weight (NW) and 144 with overweight/obesity. Body mass index (BMI) was classified as NW, overweight, and obesity. Also, waist circumference was measured. Moreover, glucose, total cholesterol, and triglycerides were determined. Genotyping for MTHFR 677C>T polymorphism was performed by the PCR-RFLP method. Results: There was no difference in the distribution of the MTHFR 677C>T polymorphism between individuals with NW and overweight/obesity; neither when they were divided by overweight vs NW, nor when we contrasted obese vs NW. However, an analysis stratified by gender showed a significant protector effect of the T T genotype against obesity in males and elevated waist circumference in females. Also, overweight/obese individuals with TT genotype had less risk of high cholesterol or triglycerides than overweight/obese subjects with the other genotypes. Conclusions: These results suggest that the MTHFR 677T polymorphism might not be a risk factor for being overweight/obesity. Rather, on the basis of our results, this variant could be a protector effect. However, further largescale population-based studies are still necessary to clarify the role of the MTHFR 677C>T polymorphism in overweight, obesity, and lipid profile level.

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Introduction: Colorectal cancer (CRC) is a complex disease due to the large number of factors that influence its development, including variants in tumor suppressor genes., Objective: To estimate allelic and genotypic frequencies of c.3915G>A and c.5371G>A variants of the TSC2 gene in a Mexican population with CRC, as well as to analyze their association with the development of CRC., Methods: 126 peripheral blood samples from patients diagnosed with sporadic CRC and 134 from healthy individuals, regarded as the control group, were included. Identification of genotypes was carried out using traditional PCR and enzymatic digestion. All individuals signed an informed consent letter., Results: The A allele of the c.3915G>A variant (OR = 0.31, 95% CI = 0.15-0.69, p = 0.004), as well as A/G haplotype of the c.3915G>A and c.5371G>A variants (OR = 0.28, 95% CI = 0.12-0.68, p = 0.005) showed a possible protective effect against sporadic CRC. In silico analysis indicated that both variants generate modifications in the splicing process., Conclusion: The presence of TSC2 gene c.3915G>A variant suggests a possible protective effect against sporadic CRC in the Mexican population; however, no association was observed with the c.5371G>A variant., (Copyright: © 2022 Permanyer.)

Background: As a result of their high prevalence, mayor depressive disorder single episode (MDDSE); major depressive disorder recurrent episodes (MDDREC); and dysthymia are considered an important public health problem. The objective of this paper was to identify and correlate environmental factors in patients with MDDSE, MDDREC and dysthymia., Methods: 121 patients from the Instituto Mexicano del Seguro Social's Subzone General Hospital of San Andres Tuxtla, at Veracruz, were questioned by history with the risk variables., Results: 16 of them were diagnosed with MDDREC, 72 with MDD and 33 with dysthymia; in all of those cases, females prevailed. Depressive disorders were observed more frequently in people over 40 years, married, with medium or low educational level, with dysfunctional family environment, victims of family violence and who were the middle siblings. The main comorbidities that arose were gastrointestinal disorders, obesity and hypertension., Results: 16 of them were diagnosed with MDDREC, 72 with MDD and 33 with dysthymia; in all of those cases, females prevailed. Depressive disorders were observed more frequently in people over 40 years, married, with medium or low educational level, with dysfunctional family environment, victims of family violence and who were the middle siblings. The main comorbidities that arose were gastrointestinal disorders, obesity and hypertension., Conclusions: The main risk factors identified for developing depressive disorders were: being female, over 40 years old and being married. The differences obtained in this study, if it is compared with others, are probably due to sample size, selection criteria and ethnic origin.

Background: Non-syndromic cleft lip with or without cleft palate (NSCLP) is a common malformation. The aetiology is multifactorial. An incidence of 1.1-1.39 per 1000 new births had been reported in Mexico. The folic acid intake in preconceptional stage has been reported to prevent malformations such as neural tube defects (NTD) and NSCLP. The C677T variant of the methylene-tetrahydrofolate reductase (MTHFR) gene is responsible of a thermolabile form, related to decrease of folate and increase homocysteine. This variant has been associated with CLP, in different populations, but results are still controversial. Our objective was to determine the allelic (AF) and genotypic frequency (GF) of the MTHFR-C677T variant in Mexican children with NSCLP., Methods: Transverse comparative study in 67 Mexican children with NSCLP and a control group with 70 unrelated Mexican individuals without NSCLP., Results: The AF in NSCLP was 39 %. There was no statistical difference between AF in the two groups (39 versus 41)., Conclusions: In this population, genotype C677T was not a major risk factor for this malformation, however, sample size, other genes implicated and genes-environment interactions must be considered.

Neurogenic diabetes insipidus (NDI) is a rare condition characterized by polyuria and polydipsia caused by deficient arginine vasopressin hormone production. More than a 50 mutations have been identified for familial autosomic dominant neurogenic diabetes insipidus (FadNDI). These mutations can cause citotoxicity and lead to the degeneration of magnocellular neurons of the hipofisis by aberrant protein accumulation. The NDI diagnosis is based on the water deprivation test, quantification of AVP hormone and Magnetic Resonance Image (MRI), and in families with history of FadNDI has been suggested the molecular analysis of mutation in the arginine vasopressin neurophisin II gene before the signs and symptoms development, with the purpose of offering a suitable diagnosis, clinical follow up and treatment. The treatment with a synthetic analogue of AVP hormone allows the remission of the signs and symptoms in NDI patients and the advances in gene therapy in animal models has been promising, as much for NDI as for other diseases in which the mutant protein production has been involved.

Thymidylate synthase (TYMS) converts dUMP to dTMP, the rate-limiting nucleotide in DNA synthesis. It is also the target for 5-flurouracil, the most common chemotherapy agent for treatment of colorectal cancer (CRC). We designed a case-control study to investigate the frequency of TS 1494del6 polymorphism in patients with CRC and controls from Mexican population. The study consists of 253 patients with CRC and 200 control subjects. Risk of CRC was estimated by use of Odds ratio (95% CI) analysis. The genotype 6bp-/6bp- in CRC patients was 18% (45/253) and in controls was 11% (22/200) with Odds ratio of 1.8 (1 - 4) with P = 0.059. When stratifying the training groups by age (< 50 years), male gender, stage III-IV and presence of metastasis, the genotype 6bp-/6bp- was as risk (p < 0.05). The genotype 6bp-/6bp- in the region untranslated 3' of TS gene, in the analyzed sample participates in important way in the development of CRC of the Mexican population.