Search results
Results from the WOW.Com Content Network
There is also an elevated risk of neural tube defects among children of individuals with the C677T polymorphism (odds ratio 1.38). [6] Common MTHFR deficiencies were once thought to be associated with cardiovascular risk, but meta-analyses indicate that correlation this was an artifact of publication bias. [clarification needed] [7] [8]
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 .
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 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] Elevations of homocysteine can also occur in the rare hereditary disease homocystinuria. [citation needed]
A deficiency of folate itself does not cause neural tube defects. The association seen between reduced neural tube defects and folic acid supplementation is due to a gene-environment interaction such as vulnerability caused by the C677T methylenetetrahydrofolate reductase (MTHFR) variant.
A meta-analysis demonstrated that polymorphism of the MTHFR C677T genotype is correlated with an ASD diagnosis in children from countries lacking food fortification. [39] While MTHFR is a proposed genetic factor for ASD, there is limited clinical evidence from testing for MTHFR gene polymorphisms in the diagnostic setting. [40]
In 2015, physicians reported [15] that a patient with an MTHFR enzyme mutation (specifically the C677T variant) had developed an adverse reaction to terbinafine (Lamisil) (headache, fatigue, and dizziness). Genetic testing revealed the MTHFR C677T mutation. It was noted that Lamisil interferes with the methylation cycle and that this can cause ...
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.