MTHFR F&Q’s

What is MTHFR?

MTHFR is an enzyme that converts folate from your diet into an active form that your body needs for good health.  Learn more here.

How do I know if I have the MTHFR gene problem?

The only way to know for sure is by testing for the MTHFR genes C667T & A1298C, see testing for MTHFR here.  Checking the symptoms for MTHFR gene mutations can help you decide to get tested.  Having a condition related to MTHFR can also be a good indication to help you decide to get tested.

What do I do if i have been diagnosed with a MTHFR gene problem?

The best thing you can do once you have been diagnosed with MTHFR gene mutations is seek specialist treatment from a practitioner that understands the problems the gene mutation causes and can assist you with a treatment that works best for you personally.  See the what to do guide here.

I have MTHFR gene mutations, do I need to take methylfolate supplements?

No.  When you are first diagnosed with mthfr gene mutations its important to understand that taking methylfolate supplements may cause you more health problems.  Some people react very badly to supplementing methylfolate, its recommended that you seek a professional treatment from a MTHFR practitioner to establish if taking methylfolate is going to be the best treatment for you.  Learn more about taking methylfolate here.

I tested positive to MTHFR, what does it mean?

A positive result simply means you have the gene mutation.  This however does not mean that you will have health issues, this is dependent on if the gene is expressing its mutation, if you experience symptoms of MTHFR or have a condition related to MTHFR then your positive result is more likely expressing itself.

My doctor said that I have MTHFR gene mutation but there is nothing I need to worry about, is that true?

When you are diagnosed with MTHFR gene mutation/s there are many things that this gene mutation can cause including serious health problems and disease.  Its very important to seek help for the condition.

What do I do if my doctor what to give me “folic acid” for my gene mutation?

Find another doctor.  It best to seek a practitioner who understands the MTHFR mutation and specializes in the proper procedures needed in treating MTHFR conditions the right way.

My doctor says that my homocysteine is fine, do I need to worry about that?

Many doctors use a wide range when it comes to homocysteine levels, often between 6 to 14 is considered ok.  MTHFR practitioners like to see homocysteine between 7 to 8.  People with mthfr gene mutations should be concerned if there homocysteine is >9 or <6.

My doctor said that I have MTHFR gene mutations and that I just need to take methylfolate supplements, is that true?

This may be true for some people with MTHFR but it is not true for everyone with the gene problems.  There are many factors to consider before supplementing methylfolate supplements and in some cases taking methylfolate supplements can cause serious health problems in some people.  Learn more about the side effects of methylfolate here.

I have been taking methylfolate supplements and I feel worse, what should I do?

Many people are prescribed methylfolate supplements when they first find out that they have gene mutations, this is often not the best way to treat the condition.  If you notice any changes from taking methylfolate supplements stop taking them and consult a MTHFR practitioner.

What the difference between homozygous and heterozygous genes?

  • Homozygous: means you have a copy of the gene mutation from both parents
  • Heterozygous: means you have one copy of the gene from one parent plus a normal one from the other parent
  • Compound heterozygous: means you have one copy of the gene from one parent and one from the other parent

What does it mean, what is my gene mutation doing?

MTHFR gene mutations cause a reduction in the enzyme methylene-tetrahydrofolate reductase (MTHFR), this means your genes are producing less of the enzyme that is needed to convert folate that goes on to do many hundreads of important job in the body that keep you healthy.

There are 2 MTHFR gene mutations these include:

  • C677T
  • A1298C

Depending on which gene mutations you have will depend on the amount of reduction in your enzyme for example:

  • MTHFR C677T heterozygous = 30-40% loss of function
  • MTHFR C677T homozygous = 60-70% loss of function
  • MTHFR A1298C heterozygous = some % loss of function – (limited research)
  • MTHFR A1298C homozygous = 40% loss of function
  • Compound heterozygous = 40-50% loss of function

What is methylation?

In short, methylation processes many of body’s important functions by supplying the body and its various system with what they need to do their job at optimal levels, here are some of the important jobs of methylation:

  • They turn genes on and off such as making repairs and building DNA and RNA
  • They reduce the aging process by protecting telomeres which have an effect on how our cells age
  • They help detoxify chemicals and heavy metals
  • They process hormones
  • They help to build immune cells
  • They turn the stress response on and off
  • They provide us with energy
  • They reduce histamine such as allergies
  • They help balance homocysteine
  • They repair cell membranes and produce myelin to protect and insulate nerves
  • They support neurotransmitters to prevent depression, anxiety, insomnia and aid brain function.
  • They help produce powerful antioxidants needed by the liver

What’s the difference between C667T & A1298C gene mutations?

Each of the gene mutations has their own set of symptoms and ways that they affect your health.  You can learn more about these two genes here.