Mitochondrial DNA variants correlate with symptoms in myalgic encephalomyelitis/chronic fatigue syndrome

Journal of Translational Medicine
Paul Billing-RossMaureen R Hanson

Abstract

Mitochondrial dysfunction has been hypothesized to occur in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS), a disease characterized by fatigue, cognitive difficulties, pain, malaise, and exercise intolerance. We investigated whether haplogroup, single nucleotide polymorphisms (SNPs), or heteroplasmy of mitochondrial DNA (mtDNA) were associated with health status and/or symptoms. Illumina sequencing of PCR-amplified mtDNA was performed to analyze sequence and extent of heteroplasmy of mtDNAs of 193 cases and 196 age- and gender-matched controls from DNA samples collected by the Chronic Fatigue Initiative. Association testing was carried out to examine possible correlations of mitochondrial sequences with case/control status and symptom constellation and severity as reported by subjects on Short Form-36 and DePaul Symptom Questionnaires. No ME/CFS subject exhibited known disease-causing mtDNA mutations. Extent of heteroplasmy was low in all subjects. Although no association between mtDNA SNPs and ME/CFS vs. healthy status was observed, haplogroups J, U and H as well as eight SNPs in ME/CFS cases were significantly associated with individual symptoms, symptom clusters, or symptom severity. Analysis of mitochondrial ge...Continue Reading

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Citations

Jun 19, 2016·Journal of Translational Medicine·Josef Finsterer, Sinda Zarrouk-Mahjoub
Dec 22, 2016·Journal of Translational Medicine·Maureen R HansonPaul Billing-Ross
Nov 6, 2018·Experimental Dermatology·Anastasia TherianouTheoharis C Theoharides
Feb 14, 2019·Metabolic Brain Disease·Gerwyn MorrisBasant K Puri
Aug 5, 2018·The Journal of Pharmacology and Experimental Therapeutics·Erifili HatziagelakiTheoharis C Theoharides
Dec 13, 2019·The Journal of Clinical Investigation·Alexandra H MandaranoMaureen R Hanson
Oct 5, 2018·Journal of Translational Medicine·Santa RasaUNKNOWN European Network on ME/CFS (EUROMENE)
Feb 12, 2020·International Journal of Molecular Sciences·Daniel MissailidisPaul R Fisher
Aug 4, 2020·Human Molecular Genetics·Joshua J DibbleChris P Ponting
Dec 18, 2020·Journal of Clinical Medicine·Eun-Jin LimChang-Gue Son
May 30, 2020·Progress in Neuro-psychopharmacology & Biological Psychiatry·G Anderson, M Maes
May 27, 2021·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·Yu D Vorobyova, A B Danilov
Aug 18, 2021·Proceedings of the National Academy of Sciences of the United States of America·Bindu D PaulSolomon H Snyder

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Methods Mentioned

BETA
PCR
electrophoresis
Assay

Software Mentioned

Python script
samtools view
MEM
Picard
BWA
Haplogrep tool
SAMtools
PLINK
Haplogrep

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