MTHFR

No, it's not an error, it is the DNA testing I had done this past February and thought I'd post the report on this blog. It's important to my family to have this information, and I was encouraged to 'spread the word' in case YOU might be afflicted.

MTHFR, DNA analysis
Result: A1298C/A1298C
Two copies of the same mutation identified.
Interpretation: (Methyltetrahydrofolate Reductase)
This patient's sample was analyzed for the MTHFR mutations C677T and A1298C. Two copies of the A1298C mutation were identified. Results for the C677T mutation were negative. Elevated homocysteine levels have not been reported when two copies of the A1298C mutation have been found. The diagnosis of hyperhomocysteinemia can not rely on DNA testing alone but should take into consideration clinical findings and other studies, such as homocysteine levels. Because MTHFR mutations and their associated risks are inherited, genetic counseling and testing of at-risk family members should be considered.
The MTHFR enzyme is responsible for creating the circulating form of folate. Folate is important in homocysteine regulation. Defects in the MTHFR enzyme can indirectly cause elevated homocysteine levels. The C677T mutation in the MTHFR gene can cause elevated homocysteine levels in individuals with insufficient folate, particularly when there are two mutations present. The A1298C mutation has not been associated with elevated homocysteine levels unless a C677T mutation is also present. Elevated serum homocysteine levels have been associated with an increased risk of cerebrovascular disease, coronary artery disease, myocardial infarction and venous thrombosis. In women, pregnancy complications and an increased risk of fetal open neural tube defects have also been reported. The relationship between these conditions and MTHFR mutations is controversial.
Additional information:
Dietary folic acid, B6 and B12 supplementation has been suggested to lower homocysteine levels in some people. Folic acid supplementation has been shown to reduce the recurrence of neural tube defects.