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

Gabriella Silvestri, Carlos T Moraes, Sara Shanske, Shin J. Oh, Salvatore DiMauro

Research output: Contribution to journalArticle

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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
Pages (from-to)1213-1217
Number of pages5
JournalAmerican Journal of Human Genetics
Volume51
Issue number6
StatePublished - Dec 1 1992
Externally publishedYes

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MERRF Syndrome
RNA, Transfer, Lys
Mitochondrial DNA
Mutation
Genes
Mitochondrial Diseases
Genetic Heterogeneity
Base Pairing
Nucleotides
Muscles
Population

ASJC Scopus subject areas

  • Genetics

Cite this

A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). / Silvestri, Gabriella; Moraes, Carlos T; Shanske, Sara; Oh, Shin J.; DiMauro, Salvatore.

In: American Journal of Human Genetics, Vol. 51, No. 6, 01.12.1992, p. 1213-1217.

Research output: Contribution to journalArticle

Silvestri, Gabriella ; Moraes, Carlos T ; Shanske, Sara ; Oh, Shin J. ; DiMauro, Salvatore. / A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). In: American Journal of Human Genetics. 1992 ; Vol. 51, No. 6. pp. 1213-1217.
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