MTHFR C677T Gene Polymorphism and Association with Disorders

Abstract

The Methylenetetrahydrofolate reductase (MTHFR) is a general and important enzyme in human cells, which is responsible for the metabolism reactions of homocysteine and folate. The genetic material for MTHFR enzyme synthesis is situated on 1 chromosome p arm in the 1p36.3 position. A lot of single nucleotide mutations have been identified in this mentioned locus, but among them well-studied is the C677T gene mutation. The C677T/MTHFR polymorphisms impact MTHFR enzyme activity, leading to alterations in methionine and folate metabolism, homocysteine levels, and in most cases subsequent effects on DNA methylation. This literature review compiles information about the MTHFR C677T polymorphism and explores its potential association with various complex, multifactorial disorders, such as cancer, cardiovascular complications, neurological conditions, and diabetes mellitus, among others. The review synthesizes findings from diverse global populations, providing valuable insights for master's and doctorate students, as well as researchers specializing in this field.