What does A1298C mutation 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.

Why do doctors not test for MTHFR?

An MTHFR test will confirm whether the raised levels are caused by a genetic mutation. Even though an MTHFR mutation brings a higher risk of birth defects, the test is not usually recommended for pregnant women.

What does homozygous MTHFR mean?

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).

How common is MTHFR A1298C?

There are two common types, or variants, of MTHFR mutations: C677T and A1298C. These gene mutations are relatively common. In fact, in the United States, around 25% of people of Hispanic descent and 10–15% of people of Caucasian descent have two copies of C677T.

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.

Can MTHFR cause autoimmune disorders?

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

How do you test MTHFR at home?

The Methylenetetrahydrofolate Reductase (MTHFR) Home Test Kits test the two important genes called MTHFR C677T and MTHFR A1298C. You can test for these genes by doing a simple cheek swab. This test is safe for men, women, and children of all ages.

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 foods to avoid if you have MTHFR?

People with MTHFR mutations may want to avoid foods that contain the synthetic form of folate, folic acid — though the evidence is not clear that’s necessary or beneficial. Be sure to check labels, as this vitamin is added to many enriched grains, like pasta, cereals, breads, and commercially produced flours.

Can MTHFR cause brain fog?

An MTHFR defect can also impair the body’s ability to synthesize important brain neurotransmitters, so that brain-based disorders may arise. An MTHFR defect has been linked to depression, anxiety, brain fog, ADHD, bipolar disorder, and even schizophrenia.

What foods to avoid if you have the MTHFR gene mutation?

What is the MTHFR A1298C variant?

Slightly less common is the MTHFR A1298C variant, affecting about 10% of the North American, European, and Australian populations combined. Having the A1298C mutation leads to 60% of normal enzyme function. Acquiring both C677T and A1298C mutations (one copy of each) is called double or compound heterozygous variation.

What is the MTHFR 1298 gene marker?

MTHFR is the short name for the genes that code for the enzyme that changes folic acid to the active form that your body uses (the long name is methylfolate reductace). 1298 is the marker for one particular MTHFR gene.

What is the MTHFR test used to diagnose?

This test is used to find out if you have one of two MTHFR mutations: C677T and A1298C. It is often used after other tests show you have higher than normal homocysteine levels in the blood.

What are the different types of MTHFR mutations?

There are different types of MTHFR mutations. An MTHFR test looks for two of these mutations, also known as variants. The MTHFR variants are called C677T and A1298C. The MTHFR gene helps your body break down a substance called homocysteine. Homocysteine is a type of amino acid, a chemical your body uses to make proteins.