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Case Reports
. 2002 Nov;27(5):397-400.
doi: 10.1016/s0887-8994(02)00456-3.

Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation

Ryoichi Sakuta  1 , Shiho Honzawa, Nobuyuki Murakami, Yuichi Goto, Toshiro Nagai
Affiliations
Case Reports

Atypical MELAS associated with mitochondrial tRNA(Lys) gene A8296G mutation

Ryoichi Sakuta et al. Pediatr Neurol. 2002 Nov.

Abstract

We report on a unique patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) presenting optic atrophy, cardiomyopathy, and bilateral striatal necrosis before stoke-like episodes became apparent. Skeletal muscle total mitochondrial DNA analysis identified a heteroplasmic A to G point mutation in the tRNA(Lys) gene at position 8296. Skeletal muscle pathology revealed typical MELAS findings, including ragged-red fibers cytochrome c oxidase positive strongly succinate dehydrogenase-reactive blood vessels. Recent reports describe the 8296 mutation identified in patients with diabetes mellitus or myoclonus epilepsy with ragged-red fibers, not MELAS. We conclude that the 8296 mutation is likely to be pathogenic and that it may be not only a mutation responsible for diabetes mellitus or myoclonus epilepsy with ragged-red fibers but also for MELAS.

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