Noor Gajraj: MTHFR Helps Turn Folate, Vitamin B9, Into The Form The Body Uses
Noor Gajraj, MD at North Texas Medical Anti-Aging Center, shared a post on LinkedIn:
“MTHFR helps turn folate, Vitamin B9, into the form the body uses
MTHFR (methylenetetrahydrofolate reductase) is a gene that makes an enzyme.
This is real biology. It is not a clotting disorder or a diagnosis.
That enzyme recycles homocysteine, an amino acid, into methionine.
Mechanistic Speculation
Wellness reports often call a common MTHFR variant a ‘mutation.’
They then link it to blood clots, miscarriage, heart disease, fatigue, and ‘poor detox.’
The usual next step is high dose methylfolate and long term fear. The enzyme can run less efficiently with two common variants, C677T and A1298C.
Two copies of C677T can raise homocysteine when folate intake is low. A1298C is milder and is not treated as a clot gene.
Hard Outcomes
These variants are common. About 10 to 15 percent of White people in North America, and more than 25 percent of Hispanic people, carry two copies of C677T.
U.S. genetics and obstetrics guidelines, plus thrombosis experts, agree:
This is not an inherited clotting disorder.
Do not order MTHFR testing for clots, recurrent pregnancy loss, or family screening.
Two copies of C677T with a normal homocysteine level do not raise clot risk.
Large trials that lowered homocysteine with B vitamins did not prevent heart attacks or repeat clots.
One modest finding remains. Women with two copies of C677T have a small extra chance of a baby with a neural tube defect, a birth defect of the brain or spine.
The extra risk is modest (odds ratio about 1.6). That does not change standard folic acid advice before and during pregnancy.
Practical Message
If the test is already done, do not treat the gene. Treat the person.
A homocysteine blood test is more useful than repeating the gene test.
If homocysteine is high, look at folate, vitamin B12, vitamin B6, kidney function, and diet.
Eat folate rich foods. A standard multivitamin or prenatal vitamin is enough for most people.
Do not start blood thinners or megadose methylfolate just because of this genotype.
Rare, severe MTHFR deficiency is a different illness. It often shows up in childhood with neurologic problems and very high homocysteine. That is not the consumer test result.
References
- Hickey SE, Curry CJ, Toriello HV. ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing.
Why this matters: This U.S. genetics guideline says common MTHFR testing has little clinical use and should not be part of clot workups. - Deloughery TG, Hunt BJ, Barnes GD, Connors JM; WTD Steering Committee. A call to action: MTHFR polymorphisms should not be a part of inherited thrombophilia testing.
Why this matters: Thrombosis experts state these common variants are not clot-risk genes and should be removed from thrombophilia panels.”
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