Thursday, October 27, 2016

New Genetic Research from NIH Applicable to ME/CFS





New genetic research from the National Institutes of Health in the US (NIH) is making big headlines and has direct applicability to ME/CFS patients and could lead to new diagnostic tools and treatments. In their article, the Solve ME/CFS Initiative explains this new research and why it is important to ME/CFS quite thoroughly, but, as usual, I will try to summarize the important points simply here. You can also read the complete scientific article at Nature.


  • The research was conducted by the National Institute of Allergies and Infectious Diseases (NIAID) and identified a specific genetic defect that matches up with many symptoms of ME/CFS.
  • The gene investigated is the Alpha Tryptase Gene. Some people have multiple copies of this gene, causing a high level of tryptase in their blood.
  • High levels of tryptase are often associated with allergic reactions (which, like ME/CFS, are caused by a partly over-active immune system) and interestingly, have been found in patients with POTS (Postural Orthostatic Tachycardia Syndrome). Since studies show that about 67% of ME/CFS patents have POTS (where the heart rate goes sky-high when you are upright) and pretty much all of us have some form of Orthostatic Intolerance, then this is directly applicable to ME/CFS patients. 
  • This particular study did not mention ME/CFS directly but described a "syndrome" with symptoms very similar to ME/CFS, including: dizziness and lightheadedness, skin flushing and itching, gastrointestinal complaints, chronic pain, and bone and joint problems (many of these are directly related to POTS).
  • In the general population, only about 4-6% of people have high tryptase levels (and some of those have these symptoms), so finding high tryptase levels in any patient group is significant.
  • In previous studies, NIAID researchers found that people with symptoms of hives, Irritable Bowel Syndrome, and overly flexible joints have high tryptase levels (again, these are all common symptoms of ME/CFS - about 15% of ME/CFS patients have hypermobile joints).
  • This current study includes members of 35 families, including 96 people with these kinds of symptoms and 41 without (sound familiar again?)
  • With more research into this gene, scientists can develop diagnostic tools based on the gene, which can lead to potential treatments, such as ways to block alpha tryptase.
So, this is all at an early stage, but this research sounds as though it is directly applicable to ME/CFS, so it will be interesting to see what happens next and if any ME/CFS researchers pick up on this finding to follow-up specifically on our disease.

I was particularly interested in this new study because my dietician/biochemist just requested tryptase tests for my son and I, as part of a panel of tests to look for signs of Mast Cell Activation. Unfortunately, the lab didn't run that test (always a problems when requesting dozens of tests at once!), so I still don't know if ours are high or not. With this new study, I may follow up on that.

So, more good news on the research front! The findings this time are in genetics, but we have had ground-breaking studies on ME/CFS in the past two years on immune dysfunction, GI tractmetabolics, more on genetics, and more - it's an exciting time!

P.S. As I explained above, all ME/CFS patients have some form of Orthostatic Intolerance (about 67% have POTS and over 97% have NMH). If this is news to you, and you didn't know you have OI, please read the information at these links and talk to your doctor. OI is something easily measured by any doctor in any office and responds well to treatment, often with dramatic improvements in quality of life and symptom relief!

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