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Nucleic Acids Res. 1991 Apr 11;19(7):1393-7.

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

Author information

1
Fachbereich Chemie, Philipps-Universit├Ąt, Marburg, FRG.

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.

PMID:
1709275
PMCID:
PMC333891
DOI:
10.1093/nar/19.7.1393
[Indexed for MEDLINE]
Free PMC Article

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