Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNALys Gene (G8363A)

Filippo M. Santorelli, Suk Chun Mak, Magda El-Schahawi, Carlo Casali, Sara Shanske, Tallie Z. Baram, Ricardo E. Madrid, Salvatore DiMauro

Research output: Contribution to journalArticle

Abstract

A novel G8363A mutation in the mtDNA tRNALys gene was associated, in two unrelated families, with a syndrome consisting of encephalomyopathy, sensorineural hearing loss, and hypertrophic cardiomyopathy. Muscle biopsies from the probands showed mitochondrial proliferation and partial defects of complexes I, III, and IV of the electron-transport chain. The G8363A mutation was very abundant (>95%) in muscle samples from the probands and was less copious in blood from 18 maternal relatives (mean 81.3% ±8.5%). Single-muscle-fiber analysis showed significantly higher levels of mutant genomes in cytochrome c oxidase-negative fibers than in cytochrome coxidase-positive fibers. The mutation was not found in >200 individuals, including normal controls and patients with other mitochondrial encephalomyopathies, thus fulfilling accepted criteria for pathogenicity.

Original languageEnglish
Pages (from-to)933-939
Number of pages7
JournalAmerican Journal of Human Genetics
Volume58
Issue number5
Publication statusPublished - 1996

ASJC Scopus subject areas

  • Genetics

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    Santorelli, F. M., Mak, S. C., El-Schahawi, M., Casali, C., Shanske, S., Baram, T. Z., Madrid, R. E., & DiMauro, S. (1996). Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNALys Gene (G8363A). American Journal of Human Genetics, 58(5), 933-939.