The C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene, associated with the thermolabile form of the enzyme, has reportedly been found to be increased in neural-tube defects (NTD), though this association is still unclear. A group of 107 mestizo parents of NTD children and five control populations: 101 mestizo (M), 50 Huichol (H), 38 Tarahumara (T), 21 Purepecha (P) and 20 Caucasian (C) individuals were typed for the MTHFR C677T variant by the PCR/RFLP (HinfI) method. Genotype frequencies were in agreement with the Hardy-Weinberg expectations in all six populations. Allele frequency (%) of the C677T variant was 45 in NTD, 44 in M, 56 in H, 36 in T, 57 in P, 35 in C. Pairwise inter-population comparisons of allele frequency disclosed a very similar distribution between NTD and M groups (exact test, P=0.92). Among controls, differences between M and individual native groups were NS (0.06
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http://dx.doi.org/10.1016/s0003-3995(00)90012-1 | DOI Listing |
BMC Cancer
January 2025
Department of Laboratory Medicine, Affiliated Gaozhou People's Hospital, Guangdong Medical University, Maoming, 525200, P.R. China.
Background: DNA hypomethylation and uracil misincorporation into DNA, both of which have a very important correlation with colorectal carcinogenesis. Folate plays a crucial role in DNA synthesis, acting as a coenzyme in one-carbon metabolism, which involves the synthesis of purines, pyrimidines, and methyl groups. MTHFR, a key enzyme in folate metabolism, has been widely studied in relation to neural tube defects and hypertension, but its role in colorectal cancer remains underexplored.
View Article and Find Full Text PDFPharmazie
December 2024
Department of Pharmacology and Toxicology, Faculty of Pharmacy, King Abdulaziz University, Jeddah, Saudi Arabia.
: Major Depressive Disorder (MDD) is a prevalent and debilitating mental disorder that has been linked to hyperhomocysteinemia and folate deficiency. These conditions are influenced by the methylenetetrahydrofolate reductase () gene, which plays a crucial role in converting homocysteine to methionine and is essential for folate metabolism and neurotransmitter synthesis, including serotonin. : This study explored the association between and polymorphisms among Saudi MDD patients attending the Erada Complex for Mental Health and Erada Services outpatient clinic in Jeddah, Saudi Arabia.
View Article and Find Full Text PDFChildren (Basel)
January 2025
2nd Department of Paediatrics, School of Medicine, Faculty of Health Sciences, Aristotle University of Thessaloniki, AHEPA University Hospital, 54636 Thessaloniki, Greece.
gene polymorphisms (677C>T and 1298A>C) correlate with various types of cancer across all age groups; however, a small number of studies have included solely children and adolescents. The aim of this systematic review and meta-analysis was to present and synthesize all the available evidence on the association between gene polymorphisms and the incidence of all types of cancer in children and adolescences. After a systematic search of all of the available data, original case-control studies involving children or adolescents with a confirmed diagnosis of any type of cancer and a molecular genetic test of gene polymorphisms were included.
View Article and Find Full Text PDFClin Pract Epidemiol Ment Health
December 2024
Laboratory of Panic and Respiration, Instituto de Psiquiatria, Universidade Federal do Rio de Janeiro (UFRJ). Rio de Janeiro, RJ, Brazil.
Background: Many pharmacological treatments are considered effective in the treatment of panic disorder (PD), however, about 20 to 40% of the patients have treatment-resistant PD. Pharmacogenetics could explain why some patients are treatment-resistant.
Objective: Our objective was to gather preliminary data on the clinical usefulness of pharmacogenetic testing in this disorder.
Indian J Clin Biochem
January 2025
Department of Biochemistry, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Manipal, Karnataka 575004 India.
Hyperhomocysteinemia (HHcy) is one of the factors contributing to the pathogenesis of coronary artery disease (CAD). Besides nutritional deficiency disorders, genetic polymorphism predominantly related to point mutation in the gene coding for Methylenetetrahydrofolate reductase (MTHFR), a key enzyme in the metabolism methionine-homocysteine (Hcy) has been implicated in HHcy. PubMed survey related to MTHFR gene polymorphism in CAD retrieved 143 articles from which 20 were selected in which MTHFR gene polymorphism and Hcy were estimated.
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