Dergiler / GORM:Gynecology Obstetrics & Reproductive Medicine / 2016 / Cilt: 22 - Sayı: 2

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

EMİNE AYDIN,Ahmet Cevdet CEYLAN,M. Sinan BEKSAÇ

Sayfa
110–112
DOI
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Abstract

5,10-methylenetetrahydrofolate reductase (MTHFR) is an important enzyme taking role in methioninehomocysteine and folate metabolisms. This pathway has been associated with gene specific DNA hypoand hypermethylation which results in gene switching on or off.MTHFR C677T and A1298C gene polymorphisms are associated with folate metabolism disorders, thatresults in impaired DNA methylation and chromosomal abnormalities, gene deficiencies and structuralanomalies. Here, we report two cases of compound heterozygote and homozygote MTHFR gene mutations associated with genetical disorders during their pregnancies.