In plain words
MTHFR is a gene that makes an enzyme. The enzyme helps the body turn into a form it can use. Some people have common versions of this gene that make the enzyme work less well. Those versions have been linked in studies with a slightly higher risk of some . Most people with them have healthy pregnancies. Clinicians generally do not recommend routine testing for it. Folate and remain the focus of prenatal guidance for everyone who could become pregnant. If you have a family history of a neural tube defect, ask your provider what it means for you.
The deeper version
The MTHFR enzyme, methylenetetrahydrofolate reductase, converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the circulating form used in methionine and homocysteine metabolism. The C677T polymorphism reduces enzyme activity, particularly in homozygotes, and is associated with a modestly higher risk of neural tube defects and a higher folate requirement in some studies (Botto and Yang, American Journal of Epidemiology, 2000). The variant was first described as a vascular risk factor (Frosst and colleagues, Nature Genetics, 1995). Periconceptional folic acid overcomes much of the population-level effect. Most professional societies do not recommend routine MTHFR testing. The controversy concerns consumer testing and whether results change management.
Where it comes up
- Eating before you conceiveBefore Pregnancy
- Prenatal vitamins: when to start and what's in themBefore Pregnancy
- Folate and folic acidPregnancy: Eating
- Trimester Zero: preparing your body before pregnancyBefore Pregnancy
What mothers here say about MTHFR
No one has posted under this term yet.
Sources
- Botto LD and Yang Q — 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review, American Journal of Epidemiology (2000)
- Frosst P and colleagues — A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase, Nature Genetics (1995)