title: Association of mitochondrial DNA variants with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) symptoms.
abstract: Earlier this year, we described an analysis of mitochondrial DNA (mtDNA) variants in myalgic encephalomyelitis (ME)/chronic fatigue syndrome (CFS) patients and healthy controls. We reported that there was no significant association of haplogroups or singe nucleotide polymorphisms (SNPs) with disease status. Nevertheless, a commentary about our paper appeared (Finsterer and Zarrouk-Mahjoub. J Transl Med14:182, 2016) that criticized the association of mtDNA haplogroups with ME/CFS, a conclusion that was absent from our paper. The aforementioned commentary also demanded experiments that were outside of the scope of our study, ones that we had suggested as follow-up studies. Because they failed to consult a published and cited report describing the cohorts we studied, the authors also cast aspersions on the method of selection of cases for inclusion. We reiterate that we observed statistically significant association of mtDNA variants with particular symptoms and their severity, though we observed no association with disease status.
authors.affiliation: Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, 14853, USA. mrh5@cornell.edu.
authors.forename: Maureen R
authors.initials: MR
authors.lastname: Hanson
authors.affiliation: Division of Nutritional Sciences, Cornell University, Ithaca, NY, 14853, USA.
authors.forename: Zhenglong
authors.initials: Z
authors.lastname: Gu
authors.affiliation: Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY, 14853, USA.
authors.forename: Alon
authors.initials: A
authors.lastname: Keinan
authors.affiliation: Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY, 14853, USA.
authors.forename: Kaixiong
authors.initials: K
authors.lastname: Ye
authors.affiliation: Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, 14853, USA.
authors.forename: Arnaud
authors.initials: A
authors.lastname: Germain
authors.affiliation: Division of Nutritional Sciences, Cornell University, Ithaca, NY, 14853, USA.
authors.forename: Paul
authors.initials: P
authors.lastname: Billing-Ross
mesh_terms: D004272:DNA, Mitochondrial / Q000097:blood / Q000235:genetics*; D015673:Fatigue Syndrome, Chronic / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial
keywords: Association; Chronic fatigue syndrome (CFS); Haplogroup; Heteroplasmy; Mitochondrial DNA; Myalgic encephalomyelitis (ME); Next-generation sequencing; SNPs; Variants; mtDNA