A genetic polymorphism associated with mitochondrial energy metabolism increases risk of fibromyalgia

Dr. Boles has had a long-term interest in how genetics variants in the mitochondrial DNA (mtDNA) affect functional disorders, now going into its third decade. He has published on mtDNA variation in cyclic vomiting syndrome, complex regional pain syndrome, chronic fatigue syndrome, SIDS, gastroparesis, irritable bowel syndrome (IBS), schizophrenia, depression, and anxiety. Most of this work has been in children. A decade ago, Dr. Boles teamed up with Dr. Miranda van Tilburg and the very-successful research groups of Drs. William Maixner (North Carolina) and Luda Diatchenko (Quebec) to study mtDNA variation related to functional disease in adults. An article linking mtDNA to IBS was previously published (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4071137/) with Dr. van Tilburg on North Carolina patients.

In an article just published this month titled A genetic polymorphism that is associated with mitochondrial energy metabolism increases risk of fibromyalgia (https://pubmed.ncbi.nlm.nih.gov/32658146/), mtDNA sequences were extensively evaluated in North Carolina adults with five different functional pain disorders: episodic migraine, irritable bowel syndrome, fibromyalgia, vulvar vestibulitis, and temporomandibular disorders. Dr. Boles participated in study design, data analysis and interpretation, and editing. Most of the experimental work was performed by Drs. Marc Parisien and van Tilburg. A specific mtDNA variant (m.2352T>C) was found to be strongly associated with fibromyalgia, as well as all of the functional pain disorders as a group. In this study, this variant was also found to be associated with a decreased mitochondrial membrane potential. The meaning of this paper can be summed up by the last sentence of the abstract: “Our results suggest that cellular energy metabolism, modulated by m.2352T>C, contributes to fibromyalgia and possibly other chronic pain conditions.”

Thus, fibromyalgia is yet another functional disorder that is associated with mtDNA, and therefore energy metabolism/mitochondrial dysfunction plays a role in what causes this condition. Dr. Boles knew it had to be true, since the mothers and grandmothers of his mtDNA patients often had fibromyalgia, but until now, no one published the connection with real data. Hopefully, this study and additional studies to come will shed light on fibromyalgia as often having a mitochondrial component, which might lead to improved therapies for sufferers.

Dr. Boles is a pediatrician who has been interested in treating CVS for 25 years, and has been a Medical Advisor of the Cyclic Vomiting Syndrome Association (CVSA) for 20 years. Trained as a geneticist at Yale, and following 20 years in academia, he now applies the latest in genetic testing for his patients in group and private practice settings. He is also a founder of NeuroNeeds LLC, its Chief Medical & Scientific Officer, as well as the principal creator of SpectrumNeeds®, a mitochondrial cocktail that he uses in the treatment of CVS.  Please visit http://molecularmitomd.com for more information about Dr. Richard Boles and his work.

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