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, the
mutation
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.
No comments:
Post a Comment