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This study was conducted with the aim of investigating mutations of the MTHFR gene (C677T and A1298C) in patients with cleft lip and cleft palate by applying exact molecular methods and constructing a DNA bank of genetic information.
Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading to homocystinuria. In addition, two polymorphic variants in this gene (C677T and A1298C) have been implicated in a mild form of MTHFR deficiency associated with hyperhomocysteinemia.
15 gru 1996 · A common genetic mutation in methylenetetrahydrofolate reductase (MTHFR), an enzyme required for efficient homocysteine metabolism, creates a thermolabile enzyme with reduced activity. We determined the prevalence of this mutation in many subjects with and without vascular disease and related it to homocysteine and folate levels.
3 sty 2023 · Background: Recently, increasing evidence has implicated methylenetetrahydrofolate reductase (MTHFR) gene mutation as a risk factor for ischemic stroke (IS) in the general population. However, studies have been inconclusive and lack evidence on specific populations.
8 mar 2012 · Methylenetetrahydrofolate Reductase (MTHFR) Deficiency is the most common genetic cause of elevated levels of homocysteine in the plasma (hyperhomocysteinemia). The MTHFR enzyme plays an important role in processing amino acids, specifically, the conversion of homocysteine to methionine.
We provide an overview of the genetic mutations in MTHFR, both rare and common sequence variants, and briefly describe our Mthfr -deficient mice, which serve as animal models for both the severe and mild forms of MTHFR deficiency.
25 lis 2021 · The human MTHFR gene is located in autosomal 1p36.3. There are a variety of mutation types and multiple mutation sites in the MTHFR gene, of which C677T (rs1801133) and A1298C (rs1801131) are two common gene sites.
