Molecular Analysis of MTHFR (C677t) Polymorphism in Patients Facing Infertility Issues

Abstract

Abstract: Methylenetetrahydrofolatereductase (MTHFR) is a regulatory enzyme which has ability to break down the amino acid homocysteine. MTHFR is coded by MTHFR gene. Variations in MTHFR gene can interfere with the enzyme’s ability to function normally or it can completely inactivate it. C677T and A1298C are the two most common types of MTHFR mutations. There are several factors that lead infertility like advanced maternal age of the patient, abnormal hormonal production in males and females, environmental factors and also their genetic changes. Most of the couples prefer IVF.

One of the patients showed TT polymorphism for C677T.Two pathogenic variants where the male patient is carrying 4 pathogenic variants. The couple are planning for IVF. The couple is advised to go for targeted testing by amniocentesis after the successful IVF procedure. Most of the patients with C677T are facing infertility issues. It is Advisable to check C677T Polymorphism in individuals planning for IVF.