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MTHFR and what i need to do.
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MTHFR and what i need to do.

I am 27 years old and have had 2 miscarriages in the last 6 months. My obgyn recently did a blood panel on my and found that I have MTHFR. I am aware with how this effects pregnancies but what does it mean for me? Does it mean I am predisposed to things, does it mean I need to be doing anything to prevent things from happening. She told me I have 2 variations and that I have A1298C.
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  • MTHFR (3 replies):
    Hi, I am 38 & I have 2 mutations of MTHFR C677T & one m...[more]
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I don't recognize this test.  Could you say what each letter means or some more information.  
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MTHFR or methylenetetrahydrofolate reductase is a rare genetic defect that can lead to complications in pregnancy.  Many people do not know that they have this defective gene until after they have had several unsuccessful pregnancies. Others may carry one pregnancy to term and not discover until afterwards that they carry the defect.  The disorder has been linked to a variety of pregnancy complications such as chromosomal abnormalities, such as Down syndrome, and congenital malformations.

If a person carries the genetic mutation that inhibits production of MTHFR enzyme, it can result in hyperhomocytenemia or an elevated level of an enzyme called homocysteine in blood plasma.

When the body is deficient in MTHFR reductase, its ability to absorb folate (also known as vitamin B9), such as folic acid, is impaired. Folic acid and B9 are both essential to the development and health of the fetus.  Thus a mother with MTHFR’s may have an inability to efficiently metabolize folic acid and vitamin B9.  

The most common MTHFR mutation, C677T, is present in the homozygous state in 5-10% of the general Caucasian population.
The presence of the A1298C mutation in the MTHFR gene in conjunction with C677T, has been associated with decreased MTHFR activity and hyperhomocysteinemia. The frequency of the A1298C mutation is reported to be as high as 30% in the general Caucasian population. Presence of the  A1298C mutation alone does not result in hyperhomocysteinemia. MTHFR mutations, when present with other genetic thrombophilic factors dramatically increase risk for venous thrombosis.

Prof. Garth Nicolson
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