The MTHFR gene and its Function
The MTHFR gene begins the methylation process as it is responsible for producing the MTHFR. This enzyme metabolises folic acid into 5-methyltetrahydrofolate (5-MTHF) which is this vitamins active form. 5-MTHF converts the amino acid homocysteine down into another essential amino acid called methionine, which is used by your body to make proteins, utilize antioxidants, and to assist your liver to process fats. Methionine also helps with depression and inflammation. It also helps convert estradiol (E2) into estriol (E3). Methionine is further converted in your liver into SAM-e (s-adenosylmethionine), which is anti-inflammatory, supports your immune system, helps produce certain neurotransmitters such as serotonin, dopamine and melatonin, and is involved in the growth, repair and maintenance of your cells.
Mutated MTHFR Genes
A mutated MTHFR gene produces a defective MTHFR enzyme which is incapable of working correctly. Most literature states there are a good 40-50 different mutations of the MTHFR gene with only two being problematic. These two are on the points at C677T and A1298C. The numbers refer to their location on the MTHFR gene. You will also sometimes just see them written as just 677 and 1298. The MTHFR anomaly is reported out as heterozygous or homozygous. If you are heterozygous that means you have one affected gene and one normal gene whereas homozygous means both genes are affected.
MTHFR C677T Heterozygous = 40% loss of function
MTHFR C677T Homozygous = 70% loss of function
MTHFR A1298C Heterozygous = 20% loss of function
MTHFR A1298C Homozygous = between 50-70%
MTHFR C677T & MTHFR A1298C heterozygous = compound heterozygous = 50% loss of function
Many chronic illnesses are linked to this anomaly. 98% of autistic children have an MTHFR anomaly. Fibromyalgia, irritable bowel syndrome, migraines, are all conditions associated with MTHFR anomaly.
The defective enzyme cannot convert folic acid into its active form properly which can cause high homocysteine levels, which can increase your risk of heart disease and stroke. Homocysteine is poorly converted into glutathione, which is your body’s chief antioxidant and detoxifier. You are then more susceptible to oxidative stress and toxin buildup. Homocysteine is poorly converted into methionine which can increase your risk of arteriosclerosis, fatty liver degenerative disease, increased inflammation, increased free radical damage and produces less SAM-e. Less SAM-e may also cause depression.
In Australia the easiest way to test for any gene mutations is via a MTHFR gene test which can be ordered by your GP.
How to treat it
Treatment does vary from patient to patient and usually involves a combination of nutrients. These include methylcobalamin (methyl-B12), methylfolate (5-MTHF) and pyridoxyl-5-phosphate (P5P). Methylcobalamin can be given as SC injections, nasal sprays, and sublingually as it does not absorb well orally while 5-MTHF and P5P are both available as capsules. If adding methyl B’s cause you to over methylate, taking time-released Niacin, 50 mg, or reducing the dose can slow it down. Symptoms of over methylation can include muscle pain or headaches, fatigue, insomnia, irritability or anxiety. If you have inflammation taking 5-MTHF can make it worse so supplements such as curcumin and Krill oil may be necessary to help overcome the inflammation.
We also produce a transdermal gel which each 1ml contains: 1mg methylcobalamin, 50mg pyridoxyl-5-phosphate and 500mcg folinic acid. This is formulated for those who cannot take capsules such as young children. It can be ordered online in the members section of this site.
There are other supplements that may be used to aid the methylation pathway such as Methionione and Trimethylglycine however some of these compounds especially SAMe may actually make things worse in some people. Glutathione should also be supplemented to help increase low levels.
All these supplements are available online through the members section of this website.
Many side effects can be avoid by starting the treatment of the methylation pathway slowly. That is to start with smaller than maintenance doses and ramp up the pathway slowly.
Dr. Ben Lynch feels that “repairing the digestive system and optimizing the flora should be one of the first steps in correcting methylation deficiency”, and that especially includes treating candida because of the toxins it releases, inhibiting proper methylation.
For more information visit Dr. Ben Lynch’s MTHFR website.
Dr Ben Lynch’s General Nutrient Recommendations for MTHFR mutations:
Betaine in the form of Trimethyl glycine
Mixed tocopherals (vitamin E)
Silymarin (Milk Thistle)
EPA/DHA – Fish Oils