Are you confused like many people are about this gene and what it means?

In the past there was some belief that it was generally only associated with weight loss and cardiovascular problems. Now more people are aware that is associated with a myriad of health problems such as anxiety, insomnia, depression, heart disease, hypertension, hypothyroidism, infertility, arthritis, Alzheimer’s disease and an increased risk of some cancers. In children with the gene mutation there is a higher prevalence of Autistic spectrum disorders and ADHD.

MTHFR stands for methylene-tetrahydrofolate reductase. This is an enzyme that converts folate into its active form. Folate is vitamin B9. The active form is 5 – methyltetrahyrdrofolate. If you have a problem with the gene, or ‘SNP’ (single nucleotide polymorphism) it effects how much folate you have available to the body as its stops the enzyme working properly and converting folate into this active form. A single nucleotide polymorphism is a DNA sequence variation occurring commonly within the population.   Polymorphisms are what make individuals different from one another.

So if you have the gene ….. what does this mean??

If you are low in active folate then it affects our methylation or methyl groups (made up of carbon and hydrogen) which are required for many processes in the body. Methyl groups turn genes on and off, turn enzymes on and off, turn on tissue repair and inflammation, and turn the stress response on and off. They also reduce aging, detoxify chemicals and hormones such as xeno-estrogens. These xeno-estrogens are hormone disrupters and are related to hormone imbalances. They can predispose you to a higher risk of breast cancer.

Methyl groups also help our cells produce energy. You may suffer fatigue as a result. Fatigue is a really common symptom. Methylation helps us to produce Glutathione, the mother of all antioxidants. Methylation is also a process that helps us make SAMe; S-Adenosyl-Methionine. SAMe is like the super hero in our body as it helps us make DNA, RNA, melatonin and more. It helps us detoxify estrogens and process other hormones such as adrenalin and noradrenalin. If your lifestyle factors are poor then methylation is further effected.

Folate is also required for;

  • Amino acid (building blocks of protein) metabolism which is involved in neurotransmitter, serotonin, dopamine and norepinephrine production and detoxification.
  • The formation and maturation of red blood cells
  • Essential for the detoxification of homocysteine (if homocysteine builds up in the body can cause cardiovascular disease)

If you are short in these methyl groups then your body cannot respond to whatever nutrients or herbs you put in your body. Which means chronic disease may not be far away.

 If you are not Methylating, then what happens??

Your immune system becomes weakened.

You may be at an increased risk of cancer

You may be susceptible to inflammatory diseases and auto immune diseases such as lupus and auto immune diabetes.

You can develop cardiovascular disease over time. This can include abnormal blood pressure, enlarged heart and atherosclerosis.

You are at a higher risk of blood clots and strokes as it causes the blood to clot more rapidly.

You can accumulate abnormal amounts of heavy metals (from the environment, foods, pesticides, dental amalgam fillings, vaccinations, exhaust fumes)

You can suffer memory impairment.

Children can be autistic. Methylation is important for the development of babies and toddlers brains.

You may suffer general fatigue and exercise intolerance – a good excuse for some people if they don’t like exercise!

I found the information below on the Genetic Genie website.

Study Confirms CFS Patients Benefit from Folate

Folinic acid (a derivative of Folate) was found to be effective according to a study (PDF). Folinic acid was used at 25 mg a day for 1-2 months. Because there was already an established association between ME/CFS and Folate deficiency, this study did not look at the folate status of their participants. Nevertheless, 81% of patients reported significant improvement in pain and energy …”


It would be interesting to know how many people with Chronic fatigue syndrome have a MTHFR gene mutation.

There are also other factors that make methylation or worse. These include poor digestion, leaky gut (intestinal permeability), poor diet, exposure to chemicals and toxins. Also lack of sleep or poor sleep and stress can make this all worse.


The following is a list of symptoms/ diseases linked to the MTHFR gene mutation that Dr. Ben Lynch , a specialist in this gene mutation, has compiled.

Autism,   Addictions (drugs/ smoking)

Downs syndrome, Oral clefts

Miscarriages, Placental abruption ,

Depression in post menopausal women

Schizophrenia, epilepsy, Bipolar disorder

Fibromyalgia , Chronic fatigue syndrome

Chemical sensitivity, Migraines with Aura

Parkinsons, Alzheimer’s, Vascular dementia

Irritable bowel syndrome

Pre-eclampsia, Infant depression via maternal depression

Stroke, blood clots, Pulmonary embolism

Esophageal Squamous cell carcinoma

Acute lymphoblastic leukemia

Colorectal adenoma, rectal cancer

Idiopathic male infertility, Increased bone fracture risk in post menopausal women

Prostate cancer, Gastric cancer, Post menopausal breast cancer

Glioma (brain tumour), Meningioma

Congenital heart defects, Tetralogy of fallot (congenital heart defect in ‘blue babies’)

Deficits in childhood cognitive development (ie; lack of speech)

Low HDL (the good cholesterol), Primary closed angle glaucoma

Cervical dysplasia, thyroid carcinoma

Hypertension, heart murmurs, Atherosclerosis,

Heart attack, High homocysteine

Potential drug toxicities; methotrexate, anti-epileptics, nitrous oxide

Multiple sclerosis, Spina bifida

Premature death, Type 1 Diabetes

MTHFR affects a lot of different pathways and can causes many different health problems. We need to look at the whole methylation pathway and not just the MTHFR gene. In this complex cycle having SNP’s / gene mutations in any of these places disrupts normal cellular function. This can mean chronic disease. The people who have these SNP’s being the MTHFR and others means you can’t make your DNA which means you can’t repair things in your body like you gut lining, or support your immune system and they can’t detoxify properly. This means you need to optimise methylation which means optimising all of these pathways and the genes that MTHFR talk to.

It is highly recommended by Dr. Lynch to get tested for the MTHFR gene mutation if you have any of the findings listed below;

  • Pre-conception care: test both man and woman
  • Mental dysfunction including but not limited to depression, anxiety, irritability, mood swings, schizophrenia, bipolar
  • Infants and children of parents with MTHFR mutations
  • Family members related to someone with MTHFR mutations
  • Elevated folate (not processing to active 5-MTHF due to inability to methylate)
  • Elevated homocysteine (due to low active 5-MTHF and methylcobalamin- Vitamin B12 )
  • Elevated s-adenosylhomocysteine (due to low active 5-MTHF and methylcobalamin)
  • Elevated serum cobalamin (due to inability to methylate cyanocobalamin to methylcobalamin)
  • Elevated methylmalonic acid (due to methylcobalamin deficiency)
  • Patients with syndromes: IBS, Chemical sensitivity, Fibromyalgia, Down Syndrome, Chronic fatigue syndrome
  • Neurological disorders: Multiple sclerosis, Autism, Alzheimer’s, Epilepsy, Parkinson’s to name a few
  • Cancer: family history of cancer or undergoing cancer treatment
  • Cervical dysplasia
  • Infertility
  • Cardiovascular risk: family history of strokes, embolisms, heart attacks, clots, essential hypertension
  • Birth defects: cleft palate, tetralogy of Fallot, spinal bifida, midline defects
  • Drug sensitivities: methotrexate, anti-epileptics, nitrous oxide, anaesthesia

Will you get tested for the MTHFR gene mutation ? If you would like to discuss this with me, or need help getting the test done, please book a consultation.



Dr. Amy Yasko

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