Contributing

How common is A1298C mutation?

by Bobbi Devlin

How common is A1298C mutation?

The frequency of the homozygotes for the A1298C and the C677T MTHFR mutations was common in the Jewish Israeli population (0.34 and 0.37, respectively).

What is C677T mutation?

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.

What is the MTHFR C677T mutation?

The MTHFR C677T variant affects how your body processes folate. You might have read or heard that folic acid is not safe if you have one or two copies of the MTHFR C677T variant.

What is MTHFR mutation and what does it mean?

MTHFR stands for Methylene-Tetra-Hydro-Folate-Reductase and is an enzyme that helps metabolize homocysteine. The heterozygous MTHFR gene mutation means the mutation is on one copy of the gene, while Homozygous means it is on both copies of the gene.

How common is MTHFR mutation?

There are two common types, or variants, of MTHFR mutation: C677T and A1298C. Mutations in MTHFR genes occur in approximately 25% of people of Hispanic descent and 10–15% of North American Caucasians. These mutations in rare occasions lead to high levels of homocysteine in the blood, which may contribute to numerous health conditions, such as:

What are the symptoms of MTHFR mutation?

High homocysteine levels: Caused by poor methylation.

  • Folate deficiency: A deficiency in folic acid (folate) could be linked to MTHFR and is worth checking out.
  • Had a miscarriage: Many alternative practitioners recommend testing for MTHFR mutations if you have had one or more miscarriages.

    • What is MTHFR gene mutation?

    MTHFR mutation: a genetic change in the gene that codes for the enzyme methylenetetrahydrofolate reductase. This enzyme is involved in breaking down the amino acid homocysteine. Having a defect in this enzyme leads to elevated blood and urine levels of homocysteine. There are two common MTHFR mutations, known as C677T and A1298C.