A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes

I. F.M. De Coo, E. A. Sistermans, I. J. De Wijs, C. Catsman-Berrevoets, H. F.M. Busch, H. R. Scholte, J. B.C. De Klerk, B. A. Van Oost, H. J.M. Smeets*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


We studied a patient with the diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) for mitochondrial DNA mutations in muscle. Established MELAS mutations were excluded. Mitochondrial DNA was further analyzed for mutations in the 22 tRNA genes by single-strand conformation polymorphism (SSCP) analysis; a tRNA(Val) mutation (G1642A) was found. The structure of the altered tRNA, the heteroplasmy, and the absence of the mutation in the mother and in 100 control subjects suggests that the tRNA(Val) mutation is associated with the MELAS syndrome.

Original languageEnglish
Pages (from-to)293-295
Number of pages3
Issue number1
Publication statusPublished - Jan 1998

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