What is A1298C heterozygous mutation?
The A1298C mutation, like the C677T mutation, results in a decrease in MTHFR activity that is more pronounced in the homozygous (CC) than in the heterozygous (AC) or normal (AA) states, and does not result in a thermolabile protein.
What does it mean to be homozygous for C677T?
Approximately 5-14% of the U.S. population is homozygous for C677T, meaning that they have two copies of it.
How is MTHFR homozygous treated?
Natural treatments for MTHFR mutation symptoms
- Consume more folate and vitamin B12. Consuming more folate in your diet may aid with methylation.
- Support detoxification.
- Minimize alcohol intake.
- Manage your stress with lifestyle changes.
- Check your supplements.
- Heal any underlying digestive issues.
What does MTHFR A1298C mean?
There are two common MTHFR mutations, known as C677T and A1298C. The term MTHFR stands for methylenetetrahydrofolate reductase. MTHFR is an enzyme that breaks down the amino acids’ homocysteine and folate. Homocysteine is an amino acid that works to maintain the body’s cells.
Can a homozygous A1298C be written 1298cc?
Homozygous A1298C (two bad copies) can also be written as C1298C (because there are two abnormal copies with C instead of A). Occasionally you’ll also see it written 1298CC
Is the MTHFR A1298C gene normal or homozygous?
When the MTFHR gene is normal, then you have a MTHFR A1298A gene. Heterozygous mutations are represented as MTFHR A1298C since they have one abnormal C and a normal A. Homozygous mutations, on the other hand, are represented as C1298C since they have two abnormal MTFHR gene copies.
Which is more common 1298A or 1298C in MTHFR?
At nucleotide 1298 of the MTHFR, there are two possibilities: A or C. 1298A (leading to a Glu at amino acid 429) is the most common while 1298C (leading to an Ala substitution at amino acid 429) is less common. 1298AA is the “normal” homozygous, 1298AC the heterozygous, and 1298CC the homozygous for the “variant”.
Is there any information on the A1298C mutation?
There is little known about the A1298C MTHFR mutation. Or so it seems. Research seems to ignore it almost completely while the C677T MTHFR mutation gets all the attention and glory. For those who have the A1298C MTHFR mutation, this is frustrating.