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

143 Citations (Scopus)

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

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RNA, Transfer, Lys
Mitochondrial Genes
Cardiomyopathies
Hearing Loss
Muscles
Mutation
Mitochondrial Encephalomyopathies
Sensorineural Hearing Loss
Hypertrophic Cardiomyopathy
Electron Transport Complex IV
Cytochromes
Electron Transport
Mitochondrial DNA
Virulence
Mothers
Genome
Biopsy
Genes
Maternal Inheritance

ASJC Scopus subject areas

  • Genetics

Cite this

Santorelli, F. M., Mak, S. C., El-Schahawi, M., Casali, C., Shanske, S., Baram, T. Z., ... 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.

Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNALys Gene (G8363A). / Santorelli, Filippo M.; Mak, Suk Chun; El-Schahawi, Magda; Casali, Carlo; Shanske, Sara; Baram, Tallie Z.; Madrid, Ricardo E.; DiMauro, Salvatore.

In: American Journal of Human Genetics, Vol. 58, No. 5, 1996, p. 933-939.

Research output: Contribution to journalArticle

Santorelli, FM, Mak, SC, El-Schahawi, M, Casali, C, Shanske, S, Baram, TZ, Madrid, RE & 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, vol. 58, no. 5, pp. 933-939.
Santorelli, Filippo M. ; Mak, Suk Chun ; El-Schahawi, Magda ; Casali, Carlo ; Shanske, Sara ; Baram, Tallie Z. ; Madrid, Ricardo E. ; DiMauro, Salvatore. / Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNALys Gene (G8363A). In: American Journal of Human Genetics. 1996 ; Vol. 58, No. 5. pp. 933-939.
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