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J Transl Med. 2016 Dec 20;14(1):342. doi: 10.1186/s12967-016-1104-5.

Association of mitochondrial DNA variants with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS) symptoms.

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Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, 14853, USA.
Division of Nutritional Sciences, Cornell University, Ithaca, NY, 14853, USA.
Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY, 14853, USA.
Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, 14853, USA.


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.


Association; Chronic fatigue syndrome (CFS); Haplogroup; Heteroplasmy; Mitochondrial DNA; Myalgic encephalomyelitis (ME); Next-generation sequencing; SNPs; Variants; mtDNA

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