The Effects MTHFR Gene Mutations on Vitamin B12 Concentration in the Blood; Bioinformatics Approach – A Review

Introduction: The protein encoded by MTHFR gene catalyzes the conversion of 5, 10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease; neural tube defects, colon cancer and acute leukemia. Also, mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.

Methods: NCBI bioinformatics database application was used to search for MTHFR gene. Protein sequences were converted into DNA and mRNA. Protein sequences were analysed into DNA and mRNA. It includes information about the accession number, the number of amino acids in the protein product, the number of exons and the length of nucleotide. Also, nucleotide sequences and mRNA were included in FASTA format. Additionally, basic local alignment search tool (BLAST) was used to compare the sequences of this gene in humans with other organisms like mouse.

Results: Human MTHFR gene can be studied through [Pan Troglodytes (chimpanzee)]. Hyperhomocysteinemia leads to several health problems including cardiovascular disease, deep vein thrombosis (DVT), pulmonary embolism (PE) and pregnancy complications.

Conclusion: There is a relationship between MTHFR gene and vitamin B12 levels. Mutation in MTHFR gene has negatively impact vitamin B12 levels and methylation pathway, which affects the conversion process of homocysteine to methionine. Therefore, several health complications are caused by the observed increases in the levels of homocysteine.