What does MTHFR A1298C mean?

What does MTHFR A1298C mean?

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.

How is MTHFR A1298C treated?

How to treat the MTHFR gene mutation? The doctor may suggest supplementation to address deficiencies, along with medications or treatments to address the specific health condition. Treatments for any disease caused by the MTFR mutation (e.g., for depression antidepressants) may be prescribed.

How common is MTHFR A1298C?

In people who are homozygous for MTHFR C677T, there is only 30% of normal enzyme function. Another mutation called MTHFR A1298C is found in 7% to 12% of North American, European, and Australian populations and is less common in Hispanics (4%–5%), Chinese (1%–4%), and Asians (1%–4%).

Which MTHFR gene is worse?

Because each person has two copies of the MTHFR gene , people can inherit one copy of a MTHFR gene variant or two copies of it (one from each parent). People who inherit two copies of C677T have a higher risk for having a child with a neural tube defect.

Does everyone have MTHFR gene?

Everyone has two MTHFR genes, one inherited from your mother and one from your father. Mutations can occur in one or both MTHFR genes. There are different types of MTHFR mutations. An MTHFR test looks for two of these mutations, also known as variants.

Does MTHFR cause vitamin D deficiency?

Women with MTHFR 677TT (homozygous mutation, TT) genotype have significantly lower vitamin D levels, higher homocysteine and natural killer (NK) cell cytotoxicities than those of women with MTHFR 677CC (wild type, CC) and 677CT (heterozygous mutation, CT) genotypes.

How is the MTHFR gene passed on?

People inherit one copy of the MTHFR gene from each of their parents, which means that everyone has two MTHFR genes. Mutations can occur in one or both of these genes. Having a parent or close relative with an MTHFR gene mutation can increase a person’s risk of inheriting the same variant themselves.

Can MTHFR cause autoimmune disorders?

1 The MTHFR mutation is also believed to predispose a person to certain cancers, birth defects, and autoimmune diseases.

Can you drink alcohol with MTHFR?

Conclusions: Moderate alcohol intake and low MTHFR activity have adverse effects on tHcy, but those effects may be overcome by sufficient folate intake.

Does the MTHFR gene cause autism?

There is a great deal of evidence suggesting that DNA methylation defects are associated with ASDs, and the role of the methylenetetrahydrofolate reductase (MTHFR) gene in folate metabolism may contribute to epigenetic mechanisms that modify complex gene expression, thus causing autism.

What percentage of people have MTHFR gene?

About 30 to 40 percent of the American population may have a mutation at gene position C677T. Roughly 25 percent of people of Hispanic descent, and 10 to 15 percent of Caucasian descent, are homozygous for this variant.

Are there symptoms for the MTHFR A1298C mutation?

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. Symptoms exist and doctors are saying there is no correlation between the MTHFR A1298C mutation and your symptoms – right?

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.

Can a single copy of MTHFR A1298C be harmful?

Again, a single copy of A1298C MTHFR does not appear to be harmful unless it is combined with the C677T MTHFR snp – known as compound heterozygous. For now, I hope this is useful for you and has shed some light into your situation.

Is there biopterin recycling in the A1298C mutation?

This is incorrect. There is not one study that shows biopterin recycling is limited to those with A1298C compared to those with C677T. In fact, lower tetrahydrabiopterin levels are likely found more frequently in those with the 677 variant compared to the 1298.