A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.

Research paper by Kurenai K Tanji, Petra P Kaufmann, Ali B AB Naini, Jiesheng J Lu, Timothy C TC Parsons, Dong D Wang, Joshua Z JZ Willey, Sara S Shanske, Michio M Hirano, Eduardo E Bonilla, Alexander A Khandji, Salvatore S Dimauro, Lewis P LP Rowland

Indexed on: 04 Mar '08Published on: 04 Mar '08Published in: Journal of the Neurological Sciences


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.