MTHFR C677T GENE (rs1801133) AND SUSCEPTIBILITY TO AUTISM SPECTRUM DISORDER (ASD)
DOI:
https://doi.org/10.47820/recima21.v5i2.4866Keywords:
Autism Spectrum Disorder (ASD). MTHFR. Polymorphism. Folic acid.Abstract
Autism Spectrum Disorder (ASD) is a complex condition likely caused by a combination of genetic, environmental, and biochemical factors. Objective: To explore the potential association between the MTHFR C677T gene (rs1801133) and ASD and gene expression regulation. Studies have shown positive results with the use of supplements such as B-complex vitamins, especially folic acid, vitamins A, C, and E, and also the consumption of a diet based on fruits, vegetables, greens, whole grains, and unsaturated fats. Methodology: Literature review in public databases on the discussed subject. Results: Studies have investigated the possible relationship between polymorphisms in the MTHFR C677T gene and the risk of ASD. These polymorphisms reduce the enzymatic activity of MTHFR, crucial for DNA methylation. Folic acid supplementation during pregnancy has proven effective in reducing the risk of ASD in offspring and improving symptoms and behaviors associated with the disorder. Additionally, other nutrients important in folate synthesis, such as vitamins B12, B6, choline, and antioxidants, should also be considered. Conclusions: The T genetic variant is common in the general population, with a higher percentage in heterozygotes. The association between the MTHFR C677T variant (rs1801133) and ASD suggests benefits of supplementation with folic acid, B-complex vitamins, A, C, and E, as well as a diet rich in fruits, vegetables, whole grains, and fats. It is also important to consider other enzymes such as CBS, COMT, MTRR, and BHMT.
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