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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]
Methylenetetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. [5] Methylenetetrahydrofolate reductase catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a cosubstrate for homocysteine remethylation to methionine.
Because MTHFR gene variations can be a very significant contributor to repeated miscarriage, I suggest this article gets a higher importance factor. MetaMetrix makes a supplement of Methyltetrahydrofolate (MTHF), FolaPro, which can be used (as a lifetime supplement) to compensate for the MTHFR gene variants that can't convert folic acid to MTHF.
Genetic defects in 5-MTHF reductase can consequently lead to hyperhomocysteinemia. The most common polymorphisms are known as MTHFR C677T and MTR A2756G. [23] [24] The homozigote mutation G;G also called C;C (it is equivalent) occurs in about 10% of the population of european ethnicity (white caucasians). [25]
C677T or rs1801133 is a genetic variation—a single nucleotide polymorphism (SNP)—in the MTHFR gene. Among Americans the frequency of T-homozygosity ranges from 1% or less among people of sub-Saharan African descent to 20% or more among Italians and Hispanics. [1] It has been related to schizophrenia [2] Alzheimer's disease [3] depression [4 ...
The “spacing effect” refers to a phenomenon whereby learning, or the creation of a memory, occurs more effectively when information, or exposure to a stimulus, is spaced out.
Sowing confusion does nothing to protect women. [Opinion]
UnitedHealth Group held its first earnings call since the shooting of its insurance executive last month.UnitedHealthcare CEO Brian Thompson was killed outside of an investor day meeting in New ...