MTHFR Mutation Explained In Plain English

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Advances in genetic testing has opened up a whole new field of nutrition science, and
One of the more common genetic variations is known as an MTHFR mutation.
This video takes a quick look at what it is, and how it can affect you.

Firstly, MTHFR really looks like an abbreviation of a bad swear word. But it's actually an important enzyme in the body and it stands for Methylenetetrahydrofolate Reductase.

MTHFR is necessary for Methylation to occur, which is a metabolic process that switches genes on and off, repairs DNA and many other important things.
Methylation is also essential to convert both folate and folic acid – each a form of Vitamin B9 – into its active form that the body can use.

Without the enzyme activity of MTHFR, conversion of folate and folic acid into a form that the body can use will not occur.

Okay so the production of that MTHFR enzyme is triggered by the MTHFR gene.
A variation or "defect" in that gene is known as an MTHFR mutation, and its thought that 30-50% of us carry this genetic defect.

Now this part is important:
Most people with a mutation remain unaffected and do not experience any noticeable effects. It is not inherently dangerous… Genetic variations are actually very common and are what makes us all look and behave differently.

However, for those who are sensitive to this defect, enzyme efficiency can drop down to between 30-70% depending on the type of mutation.
This means they do not convert folate and folic acid into their active form very well.

The consequence of this is increased levels of homocysteine, which is a strong independent risk factor for heart disease. Those who are sensitive to their MTHFR mutation are also more likely to develop a folate deficiency and are therefore at increased risk for health problems if their diet is not folate-rich.

Now what about its influence on cancer, autoimmune diseases, Alzheimer's disease and other disease states?

Considering our genes are influenced somewhat by our diet and environment, many studies are able to find a weak link between MTHFR mutations and a particular disease process or disability.
But a link does not prove cause and effect.

An MTHFR mutation could very well contribute to heart disease and folate deficiency, but that's due to the direct impact it has on homocysteine. Researchers understand that mechanism.
But with the current evidence available, it's a big stretch to claim the mutation itself directly causes these other disease states or disabilities. Innocent until PROVEN guilty.

There is one other area of health where an MTHFR mutation can be influential, and that's pregnancy.

Dietitian: Joe Leech (MSc Nutrition)

[Elizarge]

I have the mutation and have psoriatic arthritis, and depression. I have had low RBC with anemia type symptoms but no further investigation except b12 deficiency. Both of my children were born small but full term. under 6lbs each. I now take a methyl folate supplement and feel amazing. More alert yet calm if that makes sense.

[HeleneLouise]

Usually when someone has an acute myocardial infarction, the medical community blames the victim because they claim it was totally preventable and caused by bad lifestyles choices. I'm so glad to see that someone has linked genetic metabolism disturbances to ACI. I'm sure lives will be saved because of it.

[dariamancini]

Bonus points for the lovely light fixture

[nict]

I found out I have the mutation by importing my 23andMe DNA data into Promethease report. It showed I had 1 copy of C677T allele of MTHFR = 65% efficiency in processing folic acid. I am TTC baby #1, and also take another Rx that can cause low folic acid. So needless to say, I have just ordered a PreNatal which has 800mcg of L-methylfolate (sp). Do you know if this is enough or should I supplement more? thanks for the great video!

[jennakay]

I lost a baby to anencephaly last year and found out I had the mutation because I had been taking the recommended about of folic acid and it obviously wasn't enough. Now 6 months pregnant with a healthy boy because of a higher folic dose and blood thinners. It's been insane since I got diagnosed how many others in my area also have it. Hopefully science continues to find out more about this and gene therapy can be an option one day.

[pjtaylor]

Thank you, Mr. Leech. A psychiatrist prescribed L-methylfolate for my adult daughter who has OCD / anxiety / depression / chronic fatigue syndrome. The dose that takes away much of her OCD also gives her insomnia. Any thoughts on this?

[JohnInTheOC]

Excellent -easy to follow lecture! Thank you. Question if I may: Any knowledge or reference on, whether MTHFR will make vitamin B serum levels false?

[loricalass]

Mutations are said to be foundational, even essential, for evolution to occur.  Hermann Muller won a Nobel Prize for his work on mutations.  He said,   "It is entirely in line with the accidental nature of mutations that extensive tests have agreed in showing the vast majority of them detrimental to the organism in its job of surviving and reproducing -- good ones are so rare we can consider them all bad."

[DetroitRockAngel]

I have hyperhomocystienemia. I live in a rural area and nobody knows how to treat it. I don't know what to do.

[Elizarge]

I currently take 3mg in a formula with b12 to balance. I was prescribed 15 mg but after 2 days became irritable so I am working my way up to 6 mg.

[sunnysingh]

Sir, I have received a report of C677T heterozygous mutation detected.
A1298C not detected.
I can't understand the report help me.

[phxman]

Have you ever heard of a male who is homozygous for MTHFR (C677T) and having factor V leiden mutation (clotting disorder) to be the sole cause of miscarriage in a woman who does not have any MTHFR mutation whatsoever?

[ruthsalinas]

What makes a person “more sensitive” to this mutation?

[pablosteo]

Hello, do you know how many people in the world have mutation of MTHFR...?
They have some scientific studies about that?
Thank you

[jessicah]

Comparing it to that swear word is going to help me remember what that gene mutation is called! I was tested for this in 2015, and I have it but could never remember the name.

[keartsenskingdom]

No, it's not. Believe me, it is GUILTY AS CHARGED. My 10 yr old started with autoimmune encephalitis, journeyed on to autoimmune hashimotos, and Autonomic dysfunction and before we found the gene. High homocystene and massive deficits in aminos acids that come from diet, although her diet is healthy and rich with them. Do not claim that the simple mutation itself is a far-fetched leap to other diseases, please. Then again, maybe My kids case is just rare...I sure hope so

[catherinedevos]

best place to get genetic testing to get tested for this gene variation