homozyous C677T mutation

Melissa –

If I understand correctly, you are homozygous C677T.

If this is the case, yes, it may have caused the miscarriage and taking birth control pills is a bad idea.
Using family planning is the best way to do it if your period is regular.

Your C677T mutation is active if you are homozygous for it. A double mutation in the C677T area of the MTHFR gene causes a reduction of activity for that enzyme.

Taking folic acid for this mutation is ineffective.

Read this article on prenatal supplementation for MTHFR.

Please ask your doctor why s/he says your mutation is not active – then post the answer here. I have heard that twice today and it is not making sense to me.

The MTHFR gene is autosomal recessive. You have 1 copy of C677T from each of your parents. This means you have no wildtype MTHFR 677CC available. That said, you are expressing the defect.

If you carried only 1 copy of the C677T MTHFR mutation, then, yes, it would not be ‘as’ defective as it is with 2 copies – but it is still not as active as a wildtype 677CC MTHFR allele.

Read this definition of autosomal recessive.
“Recessive, autosomal: A genetic condition that appears only in individuals who have received two copies of an autosomal gene, one copy from each parent. The gene is on an autosome, a nonsex chromosome. The parents are carriers who have only one copy of the gene and do not exhibit the trait because the gene is recessive to its normal counterpart gene.

If both parents are carriers, there is a 25% chance of a child inheriting both abnormal genes and, consequently, developing the disease. There is a 50% chance of a child inheriting only one abnormal gene and of being a carrier, like the parents, and there is a 25% chance of the child inheriting both normal genes.

Cystic fibrosis (CF) is an example of an autosomal recessive disorder. A CF child has the CF gene on both chromosome 7′s and so is said to be homozygous for CF. The parents each have one CF and one normal paired gene and so are said to be heterozygous for CF”

Source: http://www.medterms.com/script/main/art.asp?articlekey=5240

I am also homozygous C677T. I had 3 miscarriages and after that, tried to find out what was wrong. I went to a great high-risk OBGYN practice and they determined the mutation. After that, my homocysteine levels were checked; they were normal. So I was to take 1 baby aspirin daily. I now have a beautiful 5-year-old daughter. It is important to have your homocysteine levels checked before decisions can be made about treatment. What I want to know now is what else should I be aware of with this mutation? I am healthy, normal weight, etc. But just wondering what to be aware of and what to let physicians know in advance?

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