Is a MTHFR Deficiency Causing your Pain, Fatigue or other Chronic Symptoms?
Most of us have heard about folate, an incredibly important micronutrient , at some point or another. Folate is required for countless reactions in the body; regulating gene expression, supporting liver detoxification systems, neurotransmitter production, hormone metabolism, immune system regulation, DNA and RNA synthesis, and mitochondrial energy production among countless others.
Considering how important and widespread folate biochemistry is within the body, it’s not hard to imagine how drastic deficiency symptoms can become. Although folate is generally ubiquitous in modern diets due to fortification programs, not everyone is able to efficiently convert dietary folic acid into its biologically active form, L-methyltetrahydrofolate, or L-MTHF, due to genetic polymorphisms.
Simple blood tests are capable of detecting single nucleotide polymorphisms or SNPs, relevant to an important enzyme system responsible for the conversion of dietary folic acid to L-MTHF. This enzyme is called methyltetrahydrofolate reductase or MTHFR, and it exists in every cell of the body.
Although hundreds of genetic variants exist with respect to the MTHFR gene, two are commonly tested for, including:
C677T and A1298C
Since everyone has 2 sets of genes (one from each parent) the severity of gene mutation depends on whether defective genes are inherited from a single parent, termed a heterozygous trait, or both parents, termed a homozygous trait.
C677T gene defects are generally more severe, reducing MTRHR activity by 40% in heterozygous patients, and 70% in homozygous patients.
A1298C gene mutations on the other hand, haven’t been found to cause a reduction in MTHFR activity, despite patients testing positive for heterozygous or homozygous mutations, although clinically this is not always the case.
Having one copy of each gene (testing as heterozygous for both mutations) decreases MTHFR activity by about 50%.
Approximately 45% of the population has at least one copy of C677T, and this risk is even higher for patients of Mexican and Italian descent.
If you or a loved one have struggled with a diagnosis of chronic fatigue, fibromyalgia, depression, alcoholism, repeat miscarriages, chronic viral infection, neuropathy, anxiety, infertility, allergies, bipolar disorder, addictive behaviour, Parkinson’s disease, multiple sclerosis, dementia or generally feel like something just “isn’t quite right”, it may be a good idea to speak to your doctor about MTHFR testing and supplementing L- MTHF.
But wait, why should I test when I can supplement with L-MTHF, and see if I feel better? Great question! Unfortunately, when one has issues converting folate into MTHF, many other enzyme systems can be affected. Simply taking L-MTHF can actually increase symptoms in those with additional nutrient deficiencies. Additionally, having some types of MTHFR defects can also predispose patients to serious drug reactions to commonly used therapeutics such as nitrous oxide, and methotrexate. Knowing your deficiencies is the best way to protect yourself, and allows your doctor to develop a comprehensive plan designed to improve your unique biochemical deficiencies and challenges.
Where can I get L-MTHF, are supplements the only way?
Individuals with established MTHFR defects can increase dietary L-MTHF via consumption of raw, dark green leafy vegetables. Unfortunately, the cooking process rapidly degrades L-MTHF, so It’s very important to eat plenty of salad containing dark greens like kale, collards and chard. Depending on your test results, and overall symptom picture, dietary greens may not be enough. In this case your doctor will prescribe additional L-MTHF in supplement form.
SpectraCell Laboratories offers testing of both variants contributing to MTHFR deficiency, at a relatively affordable price, as well as comprehensive micronutrient testing, both of which are available at Vitality Clinic, and interpreted by Dr. Anstett.
Although MTHFR defects are incredibly common, they can be treated! Knowing your MTHFR status is the first step in tackling those complicated metabolic issues that can be relatively difficult to effectively diagnose otherwise.
Happy Naturopathic Medicine week,
Dr. Kaleigh Anstett