A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.
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.
Tanji
Kurenai
K
Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, NY, USA. kt8@columbia.edu
Kaufmann
Petra
P
Naini
Ali B
AB
Lu
Jiesheng
J
Parsons
Timothy C
TC
Wang
Dong
D
Willey
Joshua Z
JZ
Shanske
Sara
S
Hirano
Michio
M
Bonilla
Eduardo
E
Khandji
Alexander
A
Dimauro
Salvatore
S
Rowland
Lewis P
LP
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*
D004272:DNA, Mitochondrial; D012366:RNA, Transfer, Val