Genetic Testing the Ultimate Preventative -MTHFR

Supplemental Treatment upon finding the MTHFR Mutation

Using Genetic Testing to Prevent Serious Health Conditions. 

Diseases like cancer, heart disease, and Alzheimer’s disease are among the top of those that lead to illness and death among United States citizens. Primary care physicians will become increasingly more familiar with the use of genetic testing in disease prevention. Unfortunately, insurance companies do not want to pay for the testing to prevent a disease but to only pay to treat when the disease is diagnosed (and even then it is often a battle). “The truth of genetic testing is that it is medically necessary as it often allows for effective prevention of serious disabling diseases or even death”. 

The aim of this article is to create awareness about health issues and prevention measures associated with common mutations (defects) in the specific gene known as methylenetetrahydrofolate reductase (MTHFR). An understanding of MTHFR genetic testing starts with looking at a few basic fundamental facts. I will first discuss the complexity of these mutations by presenting a modest analogy. MTHFR gene activity can be viewed as several rows of independently dominos falling as a part of one large project. The gene is responsible for making an enzyme that plays multiple roles in processing nutrients and proteins that produce a domino effect. The end results of such reactions are beneficial in several ways throughout the body. One of these reactions involves the conversions of folate (also called vitamin B9) to a reduced form. This reaction is required for the multistep process that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds. In that way MTHR gene measurements prevent a very serious disease referred to as strokes. 

Vascular Research

Studies indicate that C677T MTHFR mutation is powerfully connected with arterial stroke (blockage of arteries) especially in young adults, and proper evaluation will help in preventing/reducing illness caused by stroke. Studies revealed that no other risk factors except MTHFR 1298 gene mutation was linked with increased coronary artery disease. Authors of a meta-analysis (collection of many studies) reported a significant decrease in serum homocysteine when elevated (achievable by daily intake of about 0.8 mg folic acid) and has been shown to reduce the risk of ischemic heart disease by 16%, deep vein thrombosis by 25%, and stroke by 24%. MTHFR C677T polymorphism is also likely associated with hypertension (high blood pressure).

Neurological Research 

Other found that MTHFR mutations are a marker for late onset Alzheimer’s disease and worsening metal illnesses providing exciting promise for prevention and treatment. A high association between the MTHFR gene C677T mutation and diabetic peripheral neuropathy has been observed. In addition, history of retinopathy was associated with the MTHFR C677T mutation in patients with diabetic peripheral neuropathy (pain and numbness in extremities). The MTHFR C677T polymorphism is associated with an increased risk of depression. Many other neurological symptoms are often reported like insomnia, the lack of focus, weakness and numbness and tingling. 

Cancer Research

Recent findings showed MTHFR A1298C polymorphism may be a predictor of colon cancer risk and have relevance. Dominate mutations of 677TT and/or 1298CC appear to be strongly associated with breast, pancreatic and colorectal cancer. 

Countless studies have demonstrated high prevalence of MTHFR gene mutations among United States citizens.  The enormous body of MTFR academic evidence is compelling. The increased risks for several health concerns in individuals who have certain gene mutations provide a strong basis for screening recommendations among the general population.  

What can be done if there are mutations found in your laboratory profile :

Correcting methylation dysfunction begins with proper gastrointestinal balance.

Ensure only methylated forms of B vitamin supplements are consumed to prevent building up of forms of the vitamins that can not be used. 

Avoid processed foods

Consume a large amount of dark green vegetables

Eliminate toxins like excessive alcohol and tobacco.

Have metal fillings removed

Supplement with essential nutrients like methyl-B12, methyl-folate, TMG, N-acetylcysteine, riboflavin, curcumin, fish oil, Vitamins C, D, E, and probiotics. Do not use niacin unless you are sure you do not have two different dominant mutations as it can worsen the methylation. A good source example is the ACI Medicines ProMethyl MTHFR. https://www.acimedicine.com/product/pro-methyl-mthfr/

Exercise regularly and visit the sauna a few times a week. 

Consume an abundance of fruits a day.

Have your genetics tested and reviewed by a medical professional like those at ACI Medicine.

Araji, Abdallah A., Helen R. Sawaya, and Raja A. Sawaya. “Gene Mutations and Stroke in the Young Adult.” Journal of Stroke and Cerebrovascular Diseases 23.10 (2014): 2554-2558.

Curtin, Karen, et al. “MTHFR C677T and A1298C Polymorphisms Diet, Estrogen, and Risk of Colon Cancer.” Cancer Epidemiology Biomarkers & Prevention 13.2 (2004): 285-292.

Gallagher, Paula M., et al. “Homocysteine and Risk of Premature Coronary Heart Disease Evidence for a Common Gene Mutation.” Circulation 94.9 (1996): 2154-2158.

Matsubayashi, Hiroyuki, et al. “Pancreaticobiliary cancers with deficient methylenetetrahydrofolate reductase genotypes.” Clinical Gastroenterology and Hepatology 3.8 (2005): 752-760.

Roffman, Joshua L., et al. “MTHFR 677C→ T genotype disrupts prefrontal function in schizophrenia through an interaction with COMT 158Val→ Met.”Proceedings of the National Academy of Sciences 105.45 (2008): 17573-17578.

Roman, Gustavo C. “MTHFR Gene Mutations: A Potential Marker of Late-Onset Alzheimer’s Disease?.” Journal of Alzheimer’s Disease 47.2 (2015): 323-327.

Sharp, L., et al. “Folate and breast cancer: the role of polymorphisms in methylenetetrahydrofolate reductase (MTHFR).” Cancer letters 181.1 (2002): 65-71.

Wald, David S., Malcolm Law, and Joan K. Morris. “Homocysteine and cardiovascular disease: evidence on causality from a meta-analysis.” Bmj325.7374 (2002): 1202.

Yang, Boyi, et al. “Associations of MTHFR gene polymorphisms with hypertension and hypertension in pregnancy: a meta-analysis from 114 studies with 15411 cases and 21970 controls.” PloS one 9.2 (2014): e87497.

Yigit, Serbulent, Nevin Karakus, and Ahmet Inanir. “Association of MTHFR gene C677T mutation with diabetic peripheral neuropathy and diabetic retinopathy.” (2013).

Wu, Yi-Le, et al. “Association between MTHFR C677T polymorphism and depression: An updated meta-analysis of 26 studies.” Progress in Neuro-Psychopharmacology and Biological Psychiatry 46 (2013): 78-85.