Polymorphism in Methylentetrahydrofolate Reductase Gene: Important Role in Diseases

Abstract

It has been recognized that some people have a genetic variant which leads to elevated levels of homocysteine and impairs ability to process folate. This condition was recognized as independent risk factor of coronary heart disease. Recently, connection between this termolabile mutation of the methylenetetrahydrofolate reductase and numerous conditions and diseases has been established. Aim of this review is to draw attention to this interesting area in medicine. Additionally, well defined study about presence and frequency of gene polymorphism in our region will provide proper diagnosis and achieve possible delay of development of diseases with vitamin supplementation.

Association of Methylenetetrahydrofolate Reductase Gene C677T Polymorphism with Multiple Sclerosis in Turkish Patients

“…In addition, hyperhomocysteinemia has been associated with an increased risk of atherosclerosis and thrombosis, and MS patients may have an increased risk of concomitant vascular disease. 11 …”

“…C677T polymorphism of MTHFR is the most common genetic cause of hyperhomocysteinemia. 11 High levels of homocysteine have been encountered in some, but not all, MS patients. 21 Studies indicate that elevated homocysteine levels can cause damage to CNS cells multiple neurotoxic mechanisms, thus leading to the pathogenesis of MS. 11,24 Homocysteine is rapidly taken up by neurons via a specific membrane transporter, a mechanism that results in accumulation of relatively high concentrations of homocysteine within the cell.…”

“…10 The MTHFR C677T polymorphism leads to mild hyperhomocysteinemia and impairs the ability to process folate and methionine. 11 Patients with MS also have higher levels of plasma and cerebrospinal fluid homocysteine. 12 Elevated homocysteine levels and reduced availability of SAM can increase the risk of extensive neuronal loss combined with diffuse demyelination.…”

MTHFR 677C>T (rs1801133) variant is associated with homocysteinemia but not with clinical severity in patients with peripheral arterial occlusive disease

“…The plasma concentration of Hcy is in uenced by a complex interaction of environmental and genetic factors [19]. The 677C > T (rs1801133) variant of the MTHFR, which codes the methylenetetrahydrofolate reductase (MTHFR), a critical enzyme in the remethylation of Hcy to methionine, is the most common genetic cause of HHcy [20,21] This variant consists in a C (cytosine) to T (thymine) transition at the nucleotide 677 in the exon 4 [22]. HHcy and MTHFR 677 C > T genetic variant emerged as independent risk factor for subclinical atherosclerosis, implying genetic in uences as potential contributors to the increased burden of atherosclerotic disease characterizing the PAOD.…”

MTHFR 677C>T (rs1801133) variant is associated with homocysteinemia but not with clinical severity in patients with peripheral arterial occlusive disease

“…The plasma concentration of Hcy is in uenced by a complex interaction of environmental and genetic factors [19]. The 677C > T (rs1801133) variant of the MTHFR, which codes the methylenetetrahydrofolate reductase (MTHFR), a critical enzyme in the remethylation of Hcy to methionine, is the most common genetic cause of HHcy [20,21] and consists in a C (cytosine) to T (thymine) transition at the nucleotide 677 in the exon 4 [22].…”