throw in 1 diabetes.
What do these supposedly have in common?
As an epidemiologist, this subject isnt new to me.
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But the topic of MTHFR gene variants and mutations seems to be having a moment in the wellness space.
And I notice that the fearmongering conversation surrounding MTHFR gene variants resurfaces every now and again.
And it turns into a modern-day game of telephone.
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Theres no convincing or conclusive scientific evidence to prove thatallMTHFR variations are linked to health issues.
What is the MTHFR gene, and how does it work?
As I mentioned, its normal function is to produce an enzyme called methylenetetrahydrofolate reductase in the body.
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And there are a few common variants, but they arent dangerous.
Methylenetetrahydrofolate reductase helps process amino acids, which are the building blocks of protein.
More specifically, methylenetetrahydrofolate reductase converts the amino acid homocysteine to another, methionine.
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But well get to that.
For instance, lots of people have two common MTHFR variants: C677T and A1298C.
She adds that these variants are present inroughly 40 percentof people.
In fact, having a single copy of these variants doesnt decrease the activity of the enzyme.
We dont have definitive scientific research to suggest that these two MTHFR variants cause health effects.
And there arethousands of studiesthat go back and forth like this in regards to hundreds of health conditions.
But, again that combination is uncommon.
MTHFRmutations, on the other hand, can cause health problemsbut this is very rare.
Unicorns, Dr. Eng says.
A serious MTHFR mutation implies that the mutation renders the enzyme completely inactive.
There are40 or soof these mutations that we know of.
But again, this isnt the case withallMTHFR variants, only these serious mutations.
An estimated1 in 200,000 people globallyhave homocystinuria, due to either MTHFR mutations or another condition calledCBS deficiency.
Also, thesymptoms of homocystinuriarelated to an MTHFR mutation are generally observable (e.g.
seizures, neurological issues).
Cases diagnosedlater than infancy are possible, but theyre uncommon.
So what should someone do if theyre still worried about having a MTHFR variant?
Even popular genetic testing company 23andMedoes not recommendor offer testing for MTHFR variants.
For the majority of people with a common MTHFR variant, they wont have any symptoms.
Simply put, having an MTHFR variant doesnt mean you need medical treatment.
Its less expensive and it can tell you if anything is actually wrong clinically.
(Remember: Clinically significant MTHFR gene mutations would be indicated by abnormally high homocysteine levels.)
Regular folate works; you dont need anything fancy, Dr. Eng notes.
B vitamins such as B6 and B12may also be recommendedfor some people.
Your doctor can help determine what treatment and supplementation is best for you.
