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8 Μαρ 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.
6 ημέρες πριν · Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency. [provided by RefSeq, Oct 2009]
15 Μαΐ 2024 · People with an MTHFR gene variant can process all types of folate, including folic acid. Getting 400 mcg of folic acid daily can help prevent neural tube defects (NTDs). Folic acid intake is more important for determining blood folate levels than having an MTHFR variant. MTHFR gene: What is it?
17 Αυγ 2024 · Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency. [provided by RefSeq, Oct 2009]
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.
At least 40 mutations in the MTHFR gene have been identified in people with homocystinuria, a disorder in which the body is unable to process homocysteine and methionine properly.
Methylenetetrahydrofolate reductase deficiency is the most common genetic cause of elevated serum levels of homocysteine (hyperhomocysteinemia). It is caused by genetic defects in MTHFR, which is an important enzyme in the methyl cycle. [1] Common variants of MTHFR deficiency are asymptomatic and have only minor effects on disease risk. [2] .
