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Hurt, tired and queasy: Specific variants in the ATPase domain of the TRAP1 mitochondrial chaperone are associated with common, chronic "functional" symptomatology including pain, fatigue and gastrointestinal dysmotility.
Boles RG, Hornung HA, Moody AE, Ortiz TB, Wong SA, Eggington JM, Stanley CM, Gao M, Zhou H, McLaughlin S, Zare AS, Sheldon KM, Skolnick J, McKernan KJ. Boles RG, et al. Mitochondrion. 2015 Jul;23:64-70. doi: 10.1016/j.mito.2015.05.002. Epub 2015 May 27. Mitochondrion. 2015. PMID: 26022780 Free PMC article.
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.
Schwartzentruber J, Buhas D, Majewski J, Sasarman F, Papillon-Cavanagh S, Thiffault I, Sheldon KM, Massicotte C, Patry L, Simon M, Zare AS, McKernan KJ; FORGE Canada Consortium; Michaud J, Boles RG, Deal CL, Desilets V, Shoubridge EA, Samuels ME. Schwartzentruber J, et al. Among authors: boles rg. Hum Mutat. 2014 Nov;35(11):1285-9. doi: 10.1002/humu.22629. Epub 2014 Oct 18. Hum Mutat. 2014. PMID: 25130867
A genetic polymorphism that is associated with mitochondrial energy metabolism increases risk of fibromyalgia.
van Tilburg MAL, Parisien M, Boles RG, Drury GL, Smith-Voudouris J, Verma V, Khoury S, Chabot-Doré AJ, Nackley AG, Smith SB, Whitehead WE, Zolnoun DA, Slade GD, Tchivileva I, Maixner W, Diatchenko L. van Tilburg MAL, et al. Among authors: boles rg. Pain. 2020 Dec;161(12):2860-2871. doi: 10.1097/j.pain.0000000000001996. Pain. 2020. PMID: 32658146 Free PMC article.
101 results