A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy

G. Silvestri, F. M. Santorelli, S. Shanske, C. B. Whitley, L. A. Schimmenti, S. A. Smith, S. DiMauro

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We report a new mutation, a C to T transition at nt 3303 of mtDNA, in seven members of a family with cardiomyopathy and myopathy: the proband and two siblings had fatal infantile cardiomyopathy, whereas in three maternal relatives the disease manifested later in life as sudden cardiac death or as mitochondrial myopathy with cardiomyopathy. The mutation was homoplasmic in all tissues (including blood) from the proband and her brother, but heteroplasmic in blood from five oligosymptomatic or asymptomatic maternal relatives. This mutation disrupts a conserved base pair in the aminoacyl stem of the tRNALeu(UUR). None of 70 controls carried the mutation. Our data indicate that this mutation is the genetic cause of the disorder in this family, and confirm that the tRNALeu(UUR) is a “hot spot” for mutations in mtDNA. © 1994 Wiley‐Liss, Inc.

Original languageEnglish (US)
Pages (from-to)37-43
Number of pages7
JournalHuman mutation
Issue number1
StatePublished - 1994


  • Cardiomyopathy
  • Maternal inheritance
  • mtDNA
  • tRNA

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