Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.5.7.1 (methylenetetrahydrofolate reductase)
 2,116 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This is a case report of a 47-year-old patient that came to our Clinic due to bleeding during the 23rd week of twin pregnancy after in vitro fertilization-intracervical insemination/embryo transfer (IVF-ICI/ET) treatment. Prior to this pregnancy, this patient had had ten spontaneous miscarriages, eight of which following IVF-ICI/ET, and two following spontaneous conception, all in the eighth week of pregnancy. After several miscarriages by the age of 43, the patient was suggested to be tested for thrombophilia; it was then discovered that she had the methylenetetrahydrofolate reductase (MTHFR) gene defect, in the homozygous Tobiano (TT) form. Thus she was treated with cardiolipin and folic acid before pregnancy, and continued with folic acid after the pregnancy had been diagnosed. Fraxiparine 0.4 ml subcutaneous (s.c.) should be introduced from the second month of pregnancy until one day before delivery. It is a useful treatment for the patients with MTHFR defect, as it prevents miscarriage and promotes successful pregnancy.
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PMID:Defect of methylenetetrahydrofolate reductase in a patient with ten habitual misscarriages: a case report. 2344 70

The human methylenetetrahydrofolate reductase (MTHFR) gene encodes one of the key enzymes in folate metabolism. This gene is located on chromosome 1 (1p36.3), which has 12 exons. The aim of the present study was to investigate the possible association of the two (C677T and A1298C) polymorphisms of this gene with male infertility. In a case-control study, 250 blood samples were collected from IVF centres in Sari and Babol (Iran): 118 samples were from oligospermic men and 132 were from controls. Two single nucleotide polymorphisms of the MTHFR genotype were detected using polymerase chain reaction-restriction fragment length polymorphism. There was no association found between the A1298C variant and male infertility. However, carriers of the 677T allele (CT and TT genotypes) were at a higher risk of infertility than individuals with other genotypes (odds ratio 1.84; 95% confidence interval 1.11-3.04; P=0.0174). Structural analysis of human MTHFR flavoprotein showed that C677T transition played an important role in the change in affinity of the MTHFR-Flavin adenine dinucleotide binding site. Based on our results, we suggest that C677T transition in MTHFR may increase the risk of male infertility, and detection of the C677T polymorphism biomarker may be helpful in the screening of idiopathic male infertility.
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PMID:Association of C677T transition of the human methylenetetrahydrofolate reductase (MTHFR) gene with male infertility. 2541 39