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PMID: 8651277 Published · ppublish English Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).

American journal of human genetics ·Vol. 58 ·No. 5 ·1996-05-00 ·Pages 933-9

Santorelli FM, Mak SC, El-Schahawi M, Casali C, Shanske S, Baram TZ, Madrid RE, DiMauro S

Abstract

A novel G8363A mutation in the mtDNA tRNA(Lys) 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 (c) oxidase-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.

MeSH Terms
Adolescent Adult Aged Base Sequence Cardiomyopathy, Dilated/genetics,physiopathology Child Child, Preschool Female Hearing Disorders/genetics,physiopathology Humans Male Middle Aged Molecular Sequence Data Mutation Pedigree RNA/genetics RNA, Mitochondrial RNA, Transfer, Lys/genetics Syndrome
Chemicals
RNA, Mitochondrial RNA, Transfer, Lys RNA
Authors & Affiliations
8 authors, click to expand affiliations / ORCID
Santorelli F M
H. Houston Merritt Center for Muscular Research and Related Disorders, Department of Neurology, Columbia University 10032, New York, USA.
Mak S C
El-Schahawi M
Casali C
Shanske S
Baram T Z
Madrid R E
DiMauro S
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1996-05-00
Pages
933-9
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1914622
Subset
IM
Grants
NICHD NIH HHS · HD32062 · United States
Databases
GENBANK
S82310
External Links
PubMed source PMC Full Text View journal details
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