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Nucleic Acids Research, 1991, Vol. 19, No. 7 1393-1397
© 1991

MOLECULAR BIOLOGY

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

J. Lauber, C. Marsac1, B. Kadenbach* and P. Seibel

Fachbereich Chemie der Philipps-Universität, Hans-Meerwein-Straße D-3550 Marburg, FRG, France 1Laboratoire de Biochimie, INSERM U.75, Faculté de Médecine Necker-Enfants Malades, 156 Rue de Vaugirard, 75730 Paris Cedex 15, France

* To whom correspondence should be addressed

Received February 1, 1991. Revised March 14, 1991. Accepted March 14, 1991.

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 tRNALeu(UAG), tRNASeu(GCU), tRNAGly and tRNALys. One of these mutations (tRNALeu(UAG)) was found in four patients with different forms of mitochondrial myopathy. An accumulation of three different tRNA point mutations (tRNALeu(UAG)), tRNASeu(GCU)) and tRNAGly) was observed in a single patient, suggesting that mitochondrial tRNA genes represent hotspots for point mutations causing neuromuscular diseases.


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