Ask the Nurse

I was recently told by my physician that I have two copies of the MTHFR C677T mutation (homozygous mutation). What does this mean for my health?

Humans contain two copies of each gene, one from the father and one from the mother, which are referred to as the alleles of a gene. If a mutation occurs in just one copy of the gene then that individual is considered heterozygous. However, if both copies of a gene are mutated then that individual is considered homozygous.

Two copies of the MTHFR C677T mutation can result in the following symptoms:

  • Decreased enzyme activity levels.
  • Elevated homocysteine levels, especially with concurrent deficiency of vitamins B12, B6 (pyridoxine), or folic acid.
  • 3-fold increased risk for premature cardiovascular disease.
  • Increased risk for blood clots.
  • Homozygosity for the C677T mutation, in either the mother or the unborn baby has been associated with a 2-fold increased risk for neural tube defects (spina bifida and anencephaly) in some, but not all populations.
  • Obstetrics complications such as severe pre-eclampsia, placental abruption, severe fetal growth problems and fetal demise.

Current data suggests between 10-15% of whites, 25% of Hispanics and 2% of blacks have the more severe homozygous C677T mutation. The good news is most people with this homozygous mutation do well!

However, even one allele mutation, which occurs in 50% of the population makes it more likely that you will have migraine headaches or other low serotonin medical problems like:

  • depression
  • irritable bowel
  • fibromyalgia

Try taking a B-complex vitamin to help with migraine headaches and give you better energy.

July 11, 2016 at 10:51am