A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)

G. Silvestri, C. T. Moraes, S. Shanske, S. J. Oh, S. DiMauro

Research output: Contribution to journalArticlepeer-review

207 Scopus citations

Abstract

Myoclonic epilepsy with ragged-red fibers (MERRF) has been associated with an A→G transition at mtDNA nt 8344, within a conserved region of the tRNALys gene. Although the 8344 mutation is highly prevalent in patients with MERRF, it is not observed in 10%-20% of the cases, suggesting genetic heterogeneity. We have sequenced the tRNALys gene of five MERRF patients lacking the common 8344 mutation. One of these showed a novel T→C transition at nucleotide position 8356, disrupting a highly conserved base pair in the TψC stem. The mutant mtDNA population was essentially homoplasmic in muscle but was heteroplasmic in blood (47%). Neither 20 patients with other mitochondrial diseases nor 25 controls carried this mutation. These findings suggest that tRNALys alterations may play a specific role in the pathogenesis of MERRF syndrome.

Original languageEnglish (US)
Pages (from-to)1213-1217
Number of pages5
JournalAmerican journal of human genetics
Volume51
Issue number6
StatePublished - 1992
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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