MTHFR or methylenetetrahydrofolate reductaste is a gene found on a certain chromosome in every human cell. The MTHFR gene creates an enzyme responsible for a process that changes the amino acid homocysteine to methionine, another amino acid. Amino acids are the primary ingredients of proteins, and methionine makes proteins and other critical compounds. A mutation of this gene can generate a disruption of the normal function of MTHFR, which breaks down the homocysteine.
Mutations are classified as heterozygous or homozygous. If the mutation is heterozygous, themutation is on one strand (allele) of the chromosome. There are few if any clinical implications for those with a heterozygous mutation. If it is homozygous, the mutation is on both strands or alleles. It is estimated that mutations occur in 12% -17% of all humans.
High levels of homocysteine (or hyperhomocysteinemia) can cause inflammation in the body, such as to blood vessels. High levels of homocysteine have been linked to cardiovascular disease, thrombosis, certain cancers and fractures. Research is now focusing on severe MTHFR mutations that cause problems during pregnancy – most notably, miscarriage. The miscarriages are produced by a clotting disorder. There may be thyroid complications, pre-eclampsia, placental lesions and of course miscarriage. Pregnancy complications rise 80 fold for those who have a homozygous mutation.
Just how to treat MTHFR is controversial. Depending on the mutation, treatment can include supplementation with folate, care providers may also suggest a regimine of anti-clotting medications such as heparin or Lovenox. While the package insert for Lovenox states that “Lovenox is not expected to harm an unborn baby. However, some forms of this medication contain a preservative that may be harmful to a newborn.” Much of the treatment seems dependent on the type of mutation.
To learn more about MTHFR and Pregnancy, here are some valuable websites.