MTHFR is a genetic mutation that at least 40% of the population has. MTHFR mutations may affect methylation which in turn may affect many aspects of your health. Certain MTHFR mutations may also elevate homocysteine. Homocysteine is an amino acid linked to a wide range of health concerns, including a risk factor for inflammation, heart disease, pregnancy-related complications, mental health issues, behavioral problems in children, and an impaired ability to detoxify or remove wastes. We test the two common and clinically important mutations or SNPs (single nucleotide polymorphisms) known to affect MTHFR function: the C677T (a change from cytosine to thymine at position 677 within the gene) and the A1298C mutation (a change from adenine to cytosine at position 1298 within the gene).
Neural tube defects are common birth defects that result in incomplete development of the spinal cord or brain. The most common NTDs are anencephaly and spina bifida. Anencephaly results in major portions of the brain and skull not developing. Spina bifida results in incomplete development of the spine (backbone), which causes the spinal cord and the meninges (tissue covering the spinal cord) to poke out of the child’s back.
In addition, individuals with mutations in the MTHFR gene often have elevated levels of homocysteine in their blood. This is related to a deficiency of folic acid (folate or Vitamin B) and is connected to increased risk of cardiac events.
Molecular Testing Labs™ considers the MTHFR genetic test one of the most important to your health. MTHFR is involved in processing folic acid. Small changes in this chemical process can be associated with the following conditions: