What is MTHFR (C677T, A1298C)?
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What is MTHFR gene.
Methylene tetrahydrofolate reductase more commonly known as (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. There are two main variants of the MTHFR which are the most common and are known to cause the most damage. These are C677T (rs1801133) and A1298C (rs1801131) single nucleotide polymorphisms.
These two variants have been reported to influence susceptibility to occlusive vascular disease, neural tube defects, Alzheimer's disease and some forms of dementia, colon cancer, and acute leukemia. These mutations in the MTHFR gene also could be one of the main factors leading to the development and increased risk for schizophrenia.
C677T
The first MTHFR mutation we test for is the C677T. Individuals with two copies of 677C have the most common genotype. These individuals (homozygous) have lower MTHFR activity than (heterozygous) individuals who have only one copy of this mutation. About ten percent of the North American population have two copies of the mutation. There is ethnic variability in the frequency of the T allele – frequency in Mediterranean/Hispanics is greater than the frequency in Caucasians which, in turn, is greater than in Africans/African-Americans.
Individuals who have the C677T mutation have less active MTHFR available to produce 5-methyltetrahydrofolate.
A1298C
The other MTHFR mutation we test for is for the A1298C. The test results could comeback as an individual having two copies of the A1298C mutations (homozygous) or have one copy (heterozygous) or non at all.
Heterozygous MTHFR A1298C mutation is common and does not seem to pose too much risk. Homozygous MTHFR A1298C mutation is much more harmful and is usually associated with Down syndrome, development of major depressive disorder, cardiovascular disease, fibromyalgia and others.
Although this may sound bad, knowing if you have these mutation would be beneficial as taking Methylfolate, Methylcobalamin and other available supplements will allow the individual to counter many if not all of the negative effects these mutation pose.
Methylene tetrahydrofolate reductase more commonly known as (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is encoded by the MTHFR gene. There are two main variants of the MTHFR which are the most common and are known to cause the most damage. These are C677T (rs1801133) and A1298C (rs1801131) single nucleotide polymorphisms.
These two variants have been reported to influence susceptibility to occlusive vascular disease, neural tube defects, Alzheimer's disease and some forms of dementia, colon cancer, and acute leukemia. These mutations in the MTHFR gene also could be one of the main factors leading to the development and increased risk for schizophrenia.
C677T
The first MTHFR mutation we test for is the C677T. Individuals with two copies of 677C have the most common genotype. These individuals (homozygous) have lower MTHFR activity than (heterozygous) individuals who have only one copy of this mutation. About ten percent of the North American population have two copies of the mutation. There is ethnic variability in the frequency of the T allele – frequency in Mediterranean/Hispanics is greater than the frequency in Caucasians which, in turn, is greater than in Africans/African-Americans.
Individuals who have the C677T mutation have less active MTHFR available to produce 5-methyltetrahydrofolate.
A1298C
The other MTHFR mutation we test for is for the A1298C. The test results could comeback as an individual having two copies of the A1298C mutations (homozygous) or have one copy (heterozygous) or non at all.
Heterozygous MTHFR A1298C mutation is common and does not seem to pose too much risk. Homozygous MTHFR A1298C mutation is much more harmful and is usually associated with Down syndrome, development of major depressive disorder, cardiovascular disease, fibromyalgia and others.
Although this may sound bad, knowing if you have these mutation would be beneficial as taking Methylfolate, Methylcobalamin and other available supplements will allow the individual to counter many if not all of the negative effects these mutation pose.