What's the deal with MTHFR? - Pernicious Anaemi...

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What's the deal with MTHFR?

Portia1974 profile image
6 Replies

Could someone please explain to me the controversy over MTHFR? What it is and why are some people "ruffled" by the mention of it?

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Portia1974 profile image
Portia1974
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Gambit62 profile image
Gambit62Administrator

This is a link to a sight that explains MTHFR quite well.

mthfrsupport.com.au/what-is...

"MTHFR stands for methylene-tetrahydrofolate reductase.

It is an enzyme that converts folate you eat into the active form (5-Methyltetrahydrofolate)."

What people are generally talking about when they mention MTHFR are genetic polymorphisms (variants) that affect how well people make the enzyme.

It's something that affects folate processing rather than being a B12 absorption problem, and strictly speaking this forum is about a particular B12 absorption problem.

There are very few polymorphisms that have a significant impact on how well people process folate but many sights capitalise on fear and give people the impression that anyone who has a polymorphism needs to use methylfolate and methyl B12 or they will be extremely ill. The effect on B12 is secondary and the arguments about methyl B12 being necessary, let alone better from you are, at best weak ...

Any affect from these genetic polymorphisms on processing and using B12 is secondary and comes from both being used together in a number of processes.

In terms of PA it is a red-herring.

Portia1974 profile image
Portia1974 in reply to Gambit62

Thank you 😊👍

fbirder profile image
fbirder in reply to Gambit62

About one person in four thousand does not have a mutation in the MTHFR gene.

There is only one mutation, homozygous (two copies) of the C677T mutation, that has been shown by reputable and repeatable scientific studies to have any possible deleterious effect.

Some people on the interwebs have made a lot of money by spread FUD (Fear, Uncertainty and Doubt) about MTHFR.

This is what the genetic testing company 23andMe have to say on the topic...

Our Take on The MTHFR Gene," is a 23andMe blog posting (January 5, 2017), a meta-analysis finding that the past two decades of scientific evidence as it relates to specific MTHFR-influenced health conditions to be inconclusive or conflicting, with two exceptions, 1. women with two copies of C677T variant, 2. a very rare variant that may cause homocystinuria. Their takeaway, "Based on the existing data, scientists at 23andMe have concluded that people should not interpret their genotypes at the common MTHFR variants as having an effect on their health."

Portia1974 profile image
Portia1974 in reply to fbirder

Thank you. ☺👍

mislauren profile image
mislauren in reply to fbirder

I am homozygous for the C677T and had only by finding that was tested for homocysteine which was found to be extremely high. My Dr. started me on methylfolate and over a period of a year it returned to normal levels.

I am now on a minimal maintenance dose and it stays normal.

When I ran out for a few weeks my levels went back up so I stay on it. Otherwise I see no other ill health effects.

Lauren

fbirder profile image
fbirder in reply to mislauren

Yes, that’s why I recommend anybody who is C677T homozygous to take methylfolate. It can’t do any harm and it might help a lot.

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