Mitochondrial Gene Problems Contribute to ME/CFS - and other functional disorders?


Founder of Health Rising and Phoenix Rising
Staff member
This study suggests that DNA polymorphisms - different variants of genes - that alter mitochondrial functioning and affect autonomic nervous functioning are common in the so-called functional syndromes.

Mitochondrion. 2015 Apr 28. pii: S1567-7249(15)00048-3. doi: 10.1016/j.mito.2015.04.005. [Epub ahead of print]Increased prevalence of two mitochondrial DNA polymorphisms in functional disease: Are we describing different parts of an energy-depleted elephant?
Boles RG1, Zaki EA2, Kerr JR3, Das K2, Biswas S2, Gardner A4.

About 20% of the population suffers from "functional syndromes". Since these syndromes overlap greatly in terms of co-morbidity, pathophysiology (including aberrant autonomic activity) and treatment responses, common predisposing genetic factors have been postulated. We had previously showed that two common mitochondrial DNA (mtDNA) polymorphisms at positions 16519 and 3010 are statistically associated with the functional syndromes of migraine, cyclic vomiting syndrome and non-specific abdominal pain.

Herein, among individuals with mtDNA haplogroup H (HgH), the presence of these two mtDNA polymorphisms were ascertained in additional functional syndromes: chronic fatigue syndrome, complex regional pain syndrome, sudden infant death syndrome, and major depressive disorder. Polymorphic prevalence rates were compared between disease and control groups, and within each disease group in participants with and without specific clinical findings. In all four conditions, one or both of the polymorphisms was significantly associated with the respective condition and/or co-morbid functional symptomatology.

Thus, we conclude that these two mtDNA polymorphisms likely modify risk for the development of multiple functional syndromes, likely constituting a proportion of the postulated common genetic factor, at least among individuals with HgH. Pathophysiology likely involves broad effects on the autonomic nervous system.

Copyright © 2015. Published by Elsevier B.V.

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