MTHFR (Methylenetetrahydrofolate reductase) is a common genetic variant that causes a key enzyme in the body to function at a lower than normal rate. This can lead to a variety of medical problems when people with MTHFR are exposed to more toxins than their bodies can handle. There are more than 50 known MTHFR variants, but the two prime variants are 677 and 1298; the numbers refer to their location on the gene. The routine lab test for MTHFR variant only reports on 677T and 1298C since these are the most studied.
The 677T variant is most commonly associated with early heart disease and stroke, and the 1298C variant with a variety of chronic illnesses. Either anomaly can cause a wide variety of health problems. The MTHFR anomaly is heterozygous or homozygous. If you’re heterozygous, that means you have one affected gene and one normal gene. The MTHFR enzyme will run at about 55 percent to 70 percent efficiency compared to a normal MTHFR enzyme.
If you are homozygous, then enzyme efficiency drops down from 7 percent to 10 percent of normal, which, of course, makes a huge difference. The worst combination is 677T/1298C in which you’re heterozygous to both anomalies. Many chronic illnesses link to this anomaly. Autistic children have an MTHFR anomaly at a rate of 98 percent. Fibromyalgia, irritable bowel syndrome, and migraines, are all conditions associated with MTHFR anomaly. We have also rarely seen patients homozygous with 677T and heterozygous 1298C, but this is very rare.
MTHFR can make you susceptible to illness because the pathway is the primary source of glutathione production in the body. Glutathione is the body’s primary antioxidant and detoxifier. People with MTHFR anomalies usually have low glutathione, which makes them more susceptible to stress and less tolerant to toxins. As we age, MTHFR problems worsen due to the accumulation of toxins and the cumulative effect of oxidative stress.
Do you have MTHFR or Methyl issues?
If you haven’t had tests and have chronic disease(s), the first place to start is with genetic testing. Tests for the common MTHFR anomalies cost around $150 to $350 at most laboratories. Your insurance may cover the test, but in most cases, it doesn’t.
We have found a better solution for most patients, as long as time is not an issue. We use 23 and me, a genetic testing site, to obtain the raw genetic data. We then load that data into a third-party application to get a much more complete genetic picture of methylation and detoxification. Not only is the information much more complete (more than 50 snips versus two), it’s also much less expensive, just $99 for the genetic profile and another $20 for the third-party application.
Treatment Tip: An adverse reaction to treatment often means you’re on the right track but need to change the dose or rate of treatment. The same nutrient given at lower dose may help. You may also need more B vitamins, especially vitamin B6.
I’ve put together a couple of mind maps that will help you visualize the condition. There’s also a link to information put together by Dr. Neil Rawlins, including a number of his lectures on MTHFR. My mind maps closely follow his lecture notes. I wish to thank Dr. Rawlins for all the work he does in this area. While MTHFR was something I knew about, his lectures made me realize that MTHFR was a primary cause of many of my patient’s health problems.
I have put together a couple of mind maps that will help you visualize the condition. There’s also a link to information Dr. Neil Rawlins put together, including a number of his lectures on MTHFR. My mind maps closely follow his lecture notes. I wish to thank Dr. Rawlins for all the work he’s done in this area. While MTHFR was something I knew about on an intellectual basis, his lectures made me realize that MTHFR was a primary cause of many of my patient’s health problems.
Stephen Smith, M.D.'s Key recommendations
For individuals with chronic medical disorders
Get evaluated for MTHFR. It’s a simple blood test costing about $160.
Better yet get a much more complete genetic evaluation for just $99.
Discover yourself at 23andMe
Consult with a physician who knows how to treat MTHFR-related problems.
The first link will take you to Neil Rawlins’s site, where you can download his series of lectures on MTHFR. A mind map is a way to present complex material in a graphic fashion. These maps are on Mindmeister.com
Dr. Neil Rawlins’ Lectures and Notes on MTHFR
MTHFR related medical conditions
http://www.mindmeister.com/12721370ichard van Konynenburg Lectures. This is a long highly technical lecture on ME (myalgic encephalopathy) or chronic fatigue syndrome. He demonstrates how the biochemistry of methylation plays a role in chronic disease. This lecture is simply fabulous.
From The Site
Rich Van Konynenburg’s formal education was in engineering and the applied physical sciences. He received a PhD degree from the University of California-Davis in 1974. He served as an officer in the U.S. Army Corps of Engineers for two years and worked for the University of California at Lawrence Livermore National Laboratory for 30 years, doing research and development in nuclear materials and technology.
He has studied chronic fatigue syndrome (CFS) for the past 15 years. In 2007, he proposed a hypothesis for the pathogenesis and pathophysiology of CFS, called the “Glutathione Depletion – Methylation Cycle Block” hypothesis.
Dr. Van Konynenburg’s hypothesis includes both mercury toxicity and electromagnetic sensitivity as both causes and consequences of CFS.
Based on his hypothesis, he has been encouraging the application of methylation cycle treatment (originally developed to treat autism), to the treatment of CFS. This type of treatment was found in a clinical study to provide significant benefit to about two-thirds of the CFS patients who participated, and its use is growing in the CFS community internationally.