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MTHFR Genetic Polymorphisms and Methylation Issues
WHAT IS MTHFR
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MTHFR Stands for METHYLENE-TETRA-HYDRO-FOLATE- REDUCTASE and it's an enzyme that converts the folate in the food that you eat into a form which the body can utilise. This conversion of non-active folate to an active form of folate is called Methylation.  Folate is found in foods such as eggs, beans, liver and organ meats, lentils and vegetables particularly in dark green leafy vegetables. 

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The most common MTHFR mutations that we test for in Australia are called C677T and A1298C these can be Heterozygous (inherited from one parent) or Homozygous (inherited from both parents).  

WHAT IS THE ROLE OF METHYLATION,
AND WHY IS IT SO IMPORTANT?
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Methylation takes place in virtually every single cell in the human body and it is needed for many functions, processes and reactions

to occur in the body.  Some of the roles of methylation are:

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  • Repair Cell Membranes

  • Helps with the Myelination (protective coating) of our nerves.

  • Helps prevent Depression, Anxiety, Insomnia, and promotes healthy brain function and supports our neurotransmitters.

  • Reduces our histamine levels, high levels of histamine make us prone to Allergies, Asthma, skin conditions etcetera.

  • Provides us with sufficient energy.

  • Helps with a well functioning immune system.

  • Processes our hormones.

  • Helps with the detoxification of heavy metals and chemicals.

  • Protects our glutathione levels which is a major antioxidant in the body.

  • Builds and repairs our DNA & RNA.

  • Protects our telomeres so that we don't age too quickly.

  • Helps to breakdown our Homocysteine.  High homocysteine is associated with heart attack and stroke and is also an indicator of reduced life-expectancy and poor health.

WHAT IF I HAVE A MUTATION IN THE MTHFR GENE?
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It is very important to realise that if you have an MTHFR gene mutation it does not necessarily mean that you will have any issues, as diet and lifestyle play an enormous role in how our genes affect us.  However, a lot of people have severe chronic conditions which greatly improve when methylation is improved by balancing the bodies deficiencies.  Some conditions associated with MTHFR are:

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  • Depression

  • Suicidal Thoughts

  • Anxiety 

  • Stress

  • OCD 

  • Gout 

  • Infertility Issues

  • Low Sperm Count

  • Endometriosis

  • PCOS

  • Multiple Miscarriages

  • Neural Tube Defects

  • Spina Bifida

  • Late Childhood Speech onset

  • Childhood Bed wetting after toilet Training

  • Tongue Tie

  • ADD/ADHD

  • Sensory Processing Disorder

  • Aspergers

  • Dyslexia

  • Bipolar

  • Schizophrenia 

  • Insomnia

  • Low Immunity

  • Fat Metabolism Issues

  • Weight Issues

  • Gut Issues 

  • Arthritis

  • Muscle Pain

  • Join Pain

  • Asthma

  • Allergies

  • Fibromyalgia

  • Parkinsons

  • Cancer

  • Chronic Fatigue

  • Thyroid Dysfunction

  • Migraines/ Headaches

  • Alzheimers

  • Dementia

  • Heart Disease

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TESTING IS EASY
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To test if you have the MTHFR mutation it's a simple blood test either by blood draw or a finger prick test or a Buccal mouth swab.

It costs $70 (subject to change) and you have the results back in a couple of weeks.  However I generally don't recommend genetic testing as it can affect your ability to get life or health insurance and it's often not necessary to have the genetic testing done to be treated.  

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I will generally recommend some nutritional blood testing done as this is far more useful than the genetic testing as it shows me where your body is deficient. These cost around the$200 to $250 mark, however the health benefits are generally well worth the money.

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