title: A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.
abstract: Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) is the most common mitochondrial disease due to mitochondrial DNA (mtDNA) mutations. At least 15 distinct mtDNA mutations have been associated with MELAS, and about 80% of the cases are caused by the A3243G tRNA(Leu(UUR)) gene mutation. We report here a novel tRNA(Val) mutation in a 37-year-old woman with manifestations of MELAS, and compare her clinicopathological phenotype with other rare cases associated tRNA(Val) mutations.
authors.affiliation: Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, NY, USA. kt8@columbia.edu
authors.forename: Kurenai
authors.initials: K
authors.lastname: Tanji
authors.forename: Petra
authors.initials: P
authors.lastname: Kaufmann
authors.forename: Ali B
authors.initials: AB
authors.lastname: Naini
authors.forename: Jiesheng
authors.initials: J
authors.lastname: Lu
authors.forename: Timothy C
authors.initials: TC
authors.lastname: Parsons
authors.forename: Dong
authors.initials: D
authors.lastname: Wang
authors.forename: Joshua Z
authors.initials: JZ
authors.lastname: Willey
authors.forename: Sara
authors.initials: S
authors.lastname: Shanske
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
authors.forename: Eduardo
authors.initials: E
authors.lastname: Bonilla
authors.forename: Alexander
authors.initials: A
authors.lastname: Khandji
authors.forename: Salvatore
authors.initials: S
authors.lastname: Dimauro
authors.forename: Lewis P
authors.initials: LP
authors.lastname: Rowland
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D004252:DNA Mutational Analysis / Q000379:methods; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging / Q000379:methods; D009682:Magnetic Resonance Spectroscopy / Q000379:methods; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D012366:RNA, Transfer, Val / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012366:RNA, Transfer, Val