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What is MTHFR Gene Mutation?

In Managing conditions, Modalities, MTHFR Gene Mutation, Sleep, Treatments by 0 Comments

MTHFR specifically is a gene that holds the instructions for the enzyme methylenetetrahydrofolate reductase.

When functioning properly, it is highly efficient at helping our bodies convert vitamin B9 (folate), folic acid into a usable form called methylfolate.  This process is called methylation.

When the MTHFR gene is mutated, the capacity to convert vitamin B9 into methylfolate is reduced by 40-70%.

Converting folate into a useable form is essential for DNA (protein building blocks) synthesis and repair, neurotransmitter production i.e. serotonin, melatonin, dopamine just to name a few, detoxification, and immune function.

 

When the MTHFR gene is mutated, the capacity to convert vitamin B9 into methylfolate is reduced by 40-70%. 

When the MTHFR gene is mutated, the capacity to convert vitamin B9 into methylfolate is reduced by 40-70%.

 

In simpler terms imagine your DNA is a cookbook and your genes that give instructions to your cells are the recipes within that cookbook. If one of those recipes got a little mixed up (gene mutation) it can affect all the other recipes within that cookbook that call for that same recipe (gene).

Essentially that is what a mutation is – a slight change to the instructions that can have sometimes small, sometimes significant impacts on other genes.

The “folate in most processed fortified foods i.e. cereals and bakery goods and vitamins is folic acid which is harmful to those with the Gene Mutation”.

 

Are all MTHFR mutations the same?

No. There are over fifty types of MTHFR gene mutations, possibly more that have yet to be discovered.  The two that are most commonly studied and tested for are C677T and A1298C.

C677T mutation

  • We inherit one copy of each gene from our mother and father. If you test positive for the C677T mutation there are two possibilities.
  • Heterozygous – having one copy of the C677T mutation and one normal copy translating to an estimated 40% loss of function.
  • Homozygous – having two copies of the C677T mutation translating to an estimated 70% loss of function.

A1298C mutation

  • There is debate about whether those with the A1298C mutation experience diminished function. Some say no but in our experience definitely!

 

We inherit one copy of each gene from our mother and father.

We inherit one copy of each gene from our mother and father.

 

In cases where an individual is compound heterozygous – having one C677T mutation and one A1298C mutation – there is an estimated 50% loss of function.

 

What could MTHFR gene mutation affect?

Recently there is more of an understanding of what can be affected and so far, researchers have found a connection between MTHFR gene mutation and the following;

  • Tongue and lip ties, heart disease, Alzheimer’s, depression, recurrent miscarriage, asthma, prostate cancer, bladder cancer, multiple sclerosis type symptoms, anxiety, insomnia, severe PMT,

 

Can we supplement with folic acid?

Unfortunately, folic acid which is a synthetic vitamin found in fortified foods and almost all vitamin supplements is considered harmful to people with MTHFR mutations.

People who have low levels of the MTHFR enzyme are not able to convert it into a usable form.

The unconverted folic acid attaches itself to the same receptors in the body used to absorb folate, effectively blocking the body’s ability to absorb any usable folate consumed from your green vegetables.

 

Processed and fortified foods such as cereals and baked goods, and almost all vitamins contain the synthetic form of folate which is harmful to those with the Gene Mutation

Processed and fortified foods such as cereals and baked goods, and almost all vitamins contain the synthetic form of folate which is harmful to those with the Gene Mutation

 

Many lab tests do not distinguish between folic acid and folate when measuring blood levels. If folic acid intake is high, the results may show an individual has adequate amounts of folate when in fact what they actually have are high levels of unusable folic acid (but very little of the natural folate).

 

The good news!

Our DNA is not our destiny.

DNA is like a musical instrument. It’s there, but in order to make music it needs something or someone to play it. That something is epigenetics.  Epigenetics literally means “above” genetics. The epigenome is a second genome that plays the first like a violin, turning genes on and off like sheet music.

What is that sheet music?  Our lives. Our choices. The food we eat. The way we interact with stress. Whether or not we get enough sleep. And for those with the MTHFR mutation, how you compensate for it in order to support overall function.

 

Lifestyle and dietary choices can have a big impact on those with the Gene Mutation

Lifestyle and dietary choices can have a big impact on those with the Gene Mutation

 

You have the MTHFR mutation. What now?

Unfortunately, there is no “one-size-fits-all” approach to MTHFR.  Supplementation with methylfolate (labeled as 5 L-MTHF or 6(S)-L-MTHF) is often recommended along with vitamin B-12 (in the form of SL methylcobalamin or hydroxycobalamin).

However, there are cases in which supplementation can cause serious side effects, especially when high doses are introduced at the beginning.

This is often the case when the individual has other genetic mutations that interact with MTHFR or especially toxic build up that can cause severe detox reactions that one’s liver cannot cope with in methylating out these toxins.

Hence the “Brain Fog” experienced.

Consultation with an experienced Health Care Practitioner with good knowledge of MTHFR Gene Mutation is recommended.  At Natural Healing Centre we have Dr Nerida James N.D.  and Ashleigh Mythen who both have good knowledge of MTHFR.

 

How to get tested for MTHFR

A blood test referral from your Natural Health Care Practitioner or your G.P.  can be obtained for a Specialist Laboratory.   Children can also be affected and should be tested also.

 

Article sourced from Mommypotamous

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