(warning this is a very technical blog entry for those that are familiar with MTHFR)
I love reading about the methylation cycle and methyl tetrahydrofolate
reductase (MTHFR) polymorphisms. MTHFR along with some other enzymes
in your body are responsible for transferring carbons. Carbons are necessary
for building everything in your body from DNA and neurotransmitters to
proteins, fats, and cell membranes. They are also vitality important for
proper detoxification. No wonder MTHFR variations are related to diseases
Addictions: smoking, drugs, alcohol
Schizophrenia and Bipolar Disorder
Chronic Fatigue Syndrome
Multiple Chemical Sensitivity
Parkinson’s and Alzheimer’s
Irritable Bowel Syndrome
Atherosclerosis, Heart Attack, Stroke
Multiple Autoimmune Diseases
Unexplained Neurologic Disease
These are only a fracture of diseases related to how well your body utilizes carbons from your food at the cellular level.
Unfortunately working with people that have MTHFR polymorphisms is often over simplified. As you can see from the picture above there is much more to it than testing for a single MTHFR variation followed by supplementation with methylated folate aka methyltetrahydrofolate (5-MTHF). Also supplementing with methylated folate is not completely benign because some of the conditions above are associated with an over abundance of carbons which is called over methylation. Therefore taking methylated folate can make some people feel worse. 5-MTHF also effects gene expression by down regulating your post synaptic neurotransmitters receptor sites.
Folate is not the only vitamin (co-factor) used in the Methylation Cycle. Other vitamins like B6 and B12 play vital roles as well as minerals like zinc, selenium, and magnesium. Also genes like Methionine synthase reductase (MTRR), Cystathionine-β-synthase (CBS), S-adenosylhomocysteine synthase (AHCY), and S-adenosylmethionine synthetase (MAT) all encode enzymes that effect how well your body transfers carbons.
The good news is that there is a test that looks at the SAM/SAH ratio to determine your methylation status. This test actually looks at what’s going on with your methylation in real time instead of trying to guess based off of symptoms and genes. What does this all mean? Treat the person and what they’re presenting with and not just genetic results. Inflammation and environmental exposures will completely disrupt methylation in a person with no polymorphisms. Meanwhile a person with multiple polymorphisms with few environmental exposures and a great diet might not need any intervention.
With all this said if you are chronically ill you might have disrupted methylation. Is it the chicken or the egg? It depends on the person and their clinical presentation. That is why it is important to have a knowledgeable physician working with you that says more than here take folate because you have a MTHFR polymorphism. To learn more call for a free 10 minute consult. Otherwise I recommend following researchers/clinicians like Drs. William Walsh, Amy Yasko and Benjamin Lynch.