What does heterozygous indicate in a MTHFR mutation test result?
The consequences are minor.
I read your question carefully and I understand your concern.
Mutations in the MTHFR gene which codes an enzyme called MTHFR are thought to be responsible for changes in folic acid metabolism and raised levels of the amino acid homocysteine. Raised levels of homocysteine are linked with a higher risk for stroke including also arterial dissection.
Each gene in DNA contains two copies, called alleles. If a mutation is present in both copies then we say to be homozygous for that mutation, if it is present only in one of the copies then we say heterozygous. There may be different types of mutation, so there may be also the case where both alleles have a mutation but a different one, in that case it is called compound heterozygous, so you should make sure the term compound is not used in your results as well.
If indeed you are simply heterozygous, meaning only one of the two copies carries a mutation, the other works fine. As a result the consequences are minor, depending on the mutation type the alterations in the folate metabolism are from none to mild. It is the homozygous and compound heterozygous which are linked to more significant changes.
I remain at your disposal for other
The User accepted the expert's answer
Get personalised answers from verified doctor in minutes across 80+ specialties
- Mthfr gene mutation
- Mthfr c677t mutation
- Jak 2 mutation blood test
- Effects of mutation
- Collagen gene mutation testing
- Mthfr gene mutation and pregnancy
- Hemochromatosis test shows h63d mutation iron level is 190 suggestions
- Suggest vitamin supplements and precuations for mthfr c677t mutation
- What is a gene mutation
- What mutation causes pku
- What causes microvascular ischemic disease?
- Suggest treatment for severe headaches
- Can Lipitor cause brain damage?
- What causes severe migraine while on Cymbalta and Xanax?
- What are the signs and symptoms of brain aneurysm?
- What does intense pain in the temple suggest?
- What causes intense fatigue, tingling sensation in the feet and leg pain?
- What causes agitation and inappropriate sexual behavior while having...
- Suggest remedies for muscle pain, dizziness and constipation when...
- Can stress cause cyanotic discoloration on the extremities?