The Relationship Between Methylation Defects and Different Genetic Disorders: Two Case Reports

Abstract

5, 10-methylenetetrahydrofolate reductase (MTHFR) is a coding gene, for a key enzyme in methionine-homocysteine and folate metabolism. This pathway has been associated with gene specific DNA hypo and hypermethylation as a result of gene switching on or off. Methylenetetrahydrofolate reductase C677T and A1298C gene polymorphisms are associated with folate metabolism disorders; such as, it results in an impaired DNA methylation and chromosomal abnormalities, gene deficiencies and structural anomalies. Here, we reported two cases of compound heterozygote and homozygote MTHFR gene mutation association with genetical disorders during the pregnancies.

Keywords

• Abnormalities, Chromosomal, DNA methylation, Methylenetetrahydrofolate reductase, Structural