What is heterozygous A1298C?

Heterozygous MTHFR mutations seem to have only minor influences on enzyme activity and health. Heterozygous A1298C is thought to be of minor consequence (if any), while heterozygous C677T may affect folate metabolism by up to 35% (3, 11).

What does heterozygous mean?

(HEH-teh-roh-ZY-gus JEE-noh-tipe) The presence of two different alleles at a particular gene locus. A heterozygous genotype may include one normal allele and one mutated allele or two different mutated alleles (compound heterozygote).

What is compound heterozygous?

In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be mutated but at different locations).

What are the MTHFR variants?

– MTHFR C677C = normal MTHFR gene – MTHFR C677T = heterozygous mutation (one mutation) – MTHFR T677T = homozygous mutation (two mutations) – MTHFR A1298A = normal MTHFR gene – MTHFR A1298C = heterozygous mutation (one mutation) – MTHFR C1298C = homozygous mutation (two mutations) – MTHFR C677T + MTHFR A1298C = a compound heterozygous mutation

How common is MTHFR mutation?

MTHFR mutations are much more common than most think. As far as a specific number goes, it is estimated that about 40 percent of people have a MTHFR mutation. Many of them don’t realize it it, and assume that their fatigue, headaches etc. are just “genetics” passed down from another family member such as a mother or father who have been known to also suffer from such ailments.

What does the MTHFR gene mutation cause?

MTHFR mutations can also cause high levels of homocysteine in the blood, which generate a range of cardiovascular symptoms, including high blood pressure . Mental Illness MTHFR mutations can prevent the production of methylfolate.