title: A case of diabetic amyotrophy associated with 3243 mitochondrial tRNA(leu; UUR) mutation and successful therapy with coenzyme Q10.
abstract: We report the case of 71-year-old male who was once diagnosed as having diabetic amyotrophy, because of pronounced wasting in proximal muscles, massive weight loss, and development of paresthesia in his legs. Afterwards, ragged red fibers and mitochondrial tRNA mutation at position 3243 were documented in muscle biopsy. He had diabetes mellitus associated with 3243 mitochondrial DNA mutation, suggesting that clinically, diabetic amyotrophy may be overlapped with mitochondria-related disease entities in some parts. Coenzyme Q10 administration was effective in relieving the symptoms in his legs, fatigue, and residual urine in his bladder. These were confirmed with the improvement in neurological parameters. In conclusion, this case gives important help in understanding myopathy in diabetes. It would be important to check on the 3243 mitochondrial tRNA mutation in patients with diabetic amyotrophy and/or diabetic neuropathic symptoms.
authors.affiliation: Saiseikai Central Hospital, Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Suzuki
authors.forename: H
authors.initials: H
authors.lastname: Kadowaki
authors.forename: Y
authors.initials: Y
authors.lastname: Atsumi
authors.forename: K
authors.initials: K
authors.lastname: Hosokawa
authors.forename: H
authors.initials: H
authors.lastname: Katagiri
authors.forename: T
authors.initials: T
authors.lastname: Kadowaki
authors.forename: Y
authors.initials: Y
authors.lastname: Oka
authors.forename: K
authors.initials: K
authors.lastname: Uyama
authors.forename: A
authors.initials: A
authors.lastname: Mokubo
authors.forename: T
authors.initials: T
authors.lastname: Asahina
mesh_terms: D000818:Animals; D003067:Coenzymes; D048909:Diabetes Complications; D003920:Diabetes Mellitus / Q000235:genetics*; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000188:drug therapy* / Q000235:genetics* / Q000469:parasitology; D009154:Mutation; D012313:RNA / Q000235:genetics*; D000077278:RNA, Mitochondrial; D012356:RNA, Transfer, Leu / Q000235:genetics*; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000627:therapeutic use
chemical_list: D003067:Coenzymes; D000077278:RNA, Mitochondrial; D012356:RNA, Transfer, Leu; D014451:Ubiquinone; D012313:RNA; C024989:coenzyme Q10