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Mitochondrion. 2015 Jul;23:1-6. doi: 10.1016/j.mito.2015.04.005. Epub 2015 Apr 29.

Increased prevalence of two mitochondrial DNA polymorphisms in functional disease: Are we describing different parts of an energy-depleted elephant?

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Division of Medical Genetics and the Saban Research Institute, Children's Hospital Los Angeles, CA USA; Department of Pediatrics, Keck School of Medicine at the University of Southern California, Los Angeles, CA USA. Electronic address:
Division of Medical Genetics and the Saban Research Institute, Children's Hospital Los Angeles, CA USA.
Division of Clinical Sciences, St. George's University of London, Cranmer Terrace, London United Kingdom.
Department of Clinical Neuroscience, Division of Psychiatry, Karolinska Institutet, Stockholm Sweden.


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.



16519T>C; 3010G>A; Chronic pain; Dysautonomia; Psychosomatic; Sudden infant death syndrome SIDS

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