What is the MTHFR A1298C 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 heterozygous for MTHFR A1298C?
Some people have a genetic mutation in 1 or both of their MTHFR genes. People with a mutation in 1 MTHFR gene are are said to be heterozygous; if mutations are present in both genes, the person is said to be homozygous or compound heterozygous for the mutation(s).
Can MTHFR be treated?
Both L-methylfolate and folic acid are possible treatment options for individuals with reduced MTHFR activity. L-methylfolate: By bypassing the conversion step mediated by MTHFR, supplementation with L-methylfolate should improve serum and CNS folate levels, which may have an impact on depression response.
What is A1298C variant?
A1298C and C677T each refer to differences (or “variants”) in a gene in our DNA named MTHFR. Having one of these variants means that you have a slightly different version of the MTHFR gene. Category: Ask a Geneticist. A “variant” in a gene just means that the person has one letter different in their DNA.
What does it mean to be positive for one copy of the A1298C variant?
If a person has two copies (homozygous) of MTHFR C677T, or has one copy of C677T and one of A1298C, then it is likely that elevated homocysteine levels are due to these inherited mutations, or that the mutations are contributing to them.
Has two copies of A1298C in MTHFR?
Having one copy of C677T or one copy of A1298C is not associated with health risks. Likewise, having two copies of A1298C is not associated with significant health risks. However, people with two copies of the C677T mutation, as well as people who have one copy of both the mutations, have increased health risks.
Is MTHFR an autoimmune disorder?
The MTHFR mutation will also cause issues with detoxing properly, as well as issues with hormone balance and immune system function. It has been associated with autoimmune conditions such as fibromyalgia, Hashimoto's, and lupus.
What foods should I avoid with MTHFR?
Diet Considerations for Those with MTHFRAnti-inflammatory Diet. ... Avoid Processed Foods. ... Gluten-free. ... Dairy-free. ... Consume Ample Amounts of Leafy Greens. ... Eat Clean Food. ... Grass-fed & Pasture-raised Animal Products. ... Eat the rainbow.More items...•
What supplements should I take for MTHFR mutation?
It's important to opt for a supplement that contains the most bioavailable form of folate—methyl-folate—which can help your body absorb the vitamin more efficiently. Additional supplements that help support this genetic variant include magnesium, vitamin D, and vitamin B6.
How common is A1298C?
7 to 14 percentHowever, a 2015 study found that A1298C is found in 7 to 14 percent in North American, European, and Australian populations. In comparison, the variant is far less common in Hispanic and Asian populations.
How serious is MTHFR mutation?
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. People with this condition often develop eye problems, abnormal blood clotting, skeletal abnormalities, and learning problems.