You can have one or two mutations on the MTHFR gene or neither mutations. The terms mutations and variants are often used interchangeably. A variant is a part of the DNA that varies or is different from person to person.
If you have one variant (heterozygous), it’s less likely to cause or exacerbate health problems, but if you have two mutations (homozygous), many people believe this could lead to more serious problems .
The two variants or mutations that can occur on the MTHFR gene are:
C677T refers to the position of a gene. Around 30-40% of the U.S. population might have a mutation at C677T. 10-15% of people of Caucasian descent and around 25% of people of Hispanic descent are homozygous for this variant .
More research is needed in this area. One 2004 study examined 120 blood donors of Irish heritage and found 11 donors (14.2%) were homozygous for this variant, and 56 donors (46.7%) were heterozygous .
Homocysteine and Vitamins
Having an MTHFR mutation could lead to high homocysteine levels, but it’s rarely the only causative factor. Other factors that could lead to high homocysteine levels in the blood include smoking and medications like methotrexate.
The MTHFR gene hinders the way the body processes folic acid and B vitamins. Folic acid is the man-made version of the natural nutrient folate that’s added to many fortified, processed, and packaged foods. Folate is found in foods like leafy greens, liver, and eggs. People with MTHFR can’t properly metabolize this man-made folic acid.
Having a methylation issue can also impair the body’s detoxification of various substances, such as heavy metals.
What are the Symptoms of a MTHFR Gene Mutation?
Symptoms vary depending on the variant and the person. Research around the effects of MTHFR is unfolding and fairly recent.
Conditions reported to be linked to MTHFR include:
Studies show women with two C677T variants have a heightened risk of having a child with a neural tube defect .
What About Testing?
Unless you have health problems and undergo testing, you may never know about your MTHFR gene mutation status.
Most health organizations, such as the American College of Obstetricians, the American Heart Association, and the American College of Medical Genetics, don’t recommend testing for genetic variants unless a person also has especially high homocysteine levels and other health problems.
You might decide to speak to your doctor about testing for certain reasons, for example, if you’ve had several unexplained miscarriages, a child with a neural tube defect, or other chronic health problems or symptoms like pain and fatigue.
You might just be curious to find out your MTHFR status, and you might consider discussing the pros and cons of testing with your doctor. Genetic testing might not be covered by insurance.
MTHFR testing typically involves swabbing DNA from the inside of your cheeks and depositing saliva into a tube to send via mail to a lab.
What Are the Treatments for the MTHFR Mutation?