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PMID: 1709275 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases.

Nucleic acids research ·Vol. 19 ·No. 7 ·1991-04-11 ·Pages 1393-7

Lauber J, Marsac C, Kadenbach B, Seibel P

Abstract

We have sequenced the tRNA genes of mtDNA from patients with chronic progressive external ophthalmoplegia (CPEO) without detectable mtDNA deletions. Four point mutations were identified, located within highly conserved regions of mitochondrial tRNA genes, namely tRNA(Leu)(UAG), tRNA(Ser)(GCU), tRNA(Gly) and tRNA(Lys). One of these mutations (tRNA(Leu)(UAG)) was found in four patients with different forms of mitochondrial myopathy. An accumulation of three different tRNA point mutations (tRNA(Leu)(UAG)), tRNA(Ser)(GCU) and tRNA(Gly) was observed in a single patient, suggesting that mitochondrial tRNA genes represent hotspots for point mutations causing neuromuscular diseases.

MeSH Terms
Adult Base Sequence Female Humans Male Middle Aged Mitochondria/chemistry Molecular Sequence Data Mutation Neuromuscular Diseases/etiology,genetics Nucleic Acid Conformation Ophthalmoplegia/genetics Polymerase Chain Reaction RNA/genetics RNA, Mitochondrial RNA, Transfer/genetics Sequence Homology, Nucleic Acid
Chemicals
RNA, Mitochondrial RNA RNA, Transfer
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Lauber J
Fachbereich Chemie, Philipps-Universität, Marburg, FRG.
Marsac C
Kadenbach B
Seibel P
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Article Info
Journal
Nucleic acids research
Abbr.
Nucleic Acids Res
ISSN
0305-1048
DOI
10.1093/nar/19.7.1393
Published
1991-04-11
Pages
1393-7
Language
English
Region
England
NLM ID
0411011
PMCID
PMC333891
Subset
IM
External Links
PubMed source DOI: 10.1093/nar/19.7.1393 PMC Full Text View journal details
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