Depression, Asthma, Stress | February 1, 2017 | Author: Naturopath
MTHFR is an abbreviation for a common genetic mutation that is estimated to affect 30-50% of the population. Most of us don’t realise we have it or what it even really means – but maybe things like a family history of stroke or heart attack or your own struggle with depression, migraine headaches or irritable bowel syndrome may be caused by the faulty enzyme called MTHFR.
MTHFR stands for methylene-tetrahydrofolate reductase. It is an enzyme that converts the folate you eat from foods into the active form 5-Methyltetrahydrofolate via a process called methylation. If you have a mutation in this gene it means that it will affect how much active folate you have in the body.
Folate, also known as vitamin B9, is found in the foods we eat and is different from folic acid that is synthetic and found in fortified foods and supplements.
All of the above functions require the conversion of folate to the active form 5-MTHF as well as additional co-factors.
It also affects methyl groups in the body which are important to:
So in short if you are low in methyl groups, chronic disease, inflammation and poor health isn’t far away.
There is currently a total of 34 mutations that can occur in the MTHFR gene. The two main tests include:
MTHFR C677T and MTHFR A1298C
This can then be referred to as:
Heterozygous –one copy of the mutated gene from either parent and one normal copy, OR
Homozygous—two copies of the mutated gene from each parent
You can also have what is referred to as a compound heterozygous – one C677T and one A1298C mutation.
Variations in these mutations can reduce the bodies capacity to convert folate to methyl folate by 20-70%.
Compound heterozygous mutations is estimated to reduce function by 50%. This then significantly affects our immune function, detoxification, mood and overall health.
Researchers are just beginning to understand the health implications of MTHFR genetic mutations. So far they have found an association with these conditions:
This is only a short list of conditions— there are hundreds of others that have also been linked to MTFHR.
There are 3 ways in which you can get tested to discover if you have the MTHFR mutation:
Folic acid is actually considered harmful for people with MTHFR mutations. They are unfortunately unable to convert folic acid to its active form allowing it to build up in the body and block the same receptors used to absorb folate from our foods. There are supplements available containing activated folic acid (methyl folate) but these products are only available through a health practitioner. It is common for these supplements to cause side effects, so they must be taken in low doses initially if they have been prescribed to you.
If you have been diagnosed with MTHFR it just means you need to be extra vigilant with your health. Eating fresh, varied healthy foods, getting enough sleep, exercising and reducing stress are all important aspects to compensate the effects of the mutation.
You also need to go back to basic nutritional principles.
People who consume a diet high in animal proteins with small amounts of plant-based foods tend to be low in folate.
It is recommended you eat loads of leafy, green vegetables, sprouts and fruit. Liver, kidney and brewer’s yeast are also rich sources.
If you have unresolved health issues and are concerned you may have this gene is recommended to seek the advice of a naturopath or GP who specialises in this area, as MTHFR mutations and the health concerns for each individual can be varied and complex.
Trimmer EE, et al. Methylenetetrahydrofolate reductase: biochemical characterization and medical significance. Curr Pharm Des. 2013;19(14):2574-93
Altomare I, et al. The 5, 10 methylenetetrahydrofolate reductase C677T mutation and risk of foetal loss: a case series and review of the literature. Throb J. 2007;5:17
Thuesen BH, et al. Stopy, asthma, and lung function in relation to folate and vitamin B(12) in adults. Allergy. 2010 Nov;65(11):1446-54
Marchal C, et al. Association between polymorphisms of folate-metabolizing enzymes and risk of prostate cancer. EJSO July 2008;34(7):805-810