What is MTHFR A1298C?
What is MTHFR A1298C?
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.
Does MTHFR cause blood clots?
Some individuals with a MTHFR mutation have elevated homocysteine levels. Elevated homocysteine levels may cause irritation of the blood vessels and are considered a risk factor for blood clots. Individuals with MTHFR mutations who have normal homocysteine levels are not at increased risk for clots.
What does heterozygous A1298C mean?
Being homozygous for MTHFR A1298C leads to 60% of normal enzyme function. People may also have 1 abnormal MTHFR C677T gene plus 1 abnormal MTHFR A1298C gene; this is termed double heterozygous. Decreased enzyme function may also result.
What does MTHFR A1298C heterozygous mean?
What is C677T and A1298C?
Two common non-synonymous variants, the C677T (Ala222Val) and A1298C (Glu429Ala), were described for the MTHFR gene and associated with a decreased enzymatic activity and an alteration of intracellular folate distribution. Other MTHFR polymorphisms with marginal impact on enzymatic activity were also reported.
Does MTHFR cause inflammation?
In summary, this study indicates that MTHFR gene polymorphisms have effect on systemic inflammation.
