Mitochondrial DNA deletions in oculopharyngeal muscular dystrophy

Gabriella Silvestri, Serenella Servidei, Angela M.S. Lezza, Antonella Cormio, Patrizia Gerardi, Luigi Serlenga, Palmiro Cantatore, Maria Nicola Gadaleta

Risultato della ricerca: Contributo in rivistaArticolo in rivista

10 Citazioni (Scopus)

Abstract

The deletions in the mitochondrial DNA from skeletal muscle samples of two oculopharyngeal muscular dystrophy cases were studied using polymerase chain reaction techniques. The 4977 bp 'common deletion' was present in both specimens, exceeding the corresponding values of similarly aged, healthy controls. In the two samples multiple different mitochondrial DNA deletions, some case-specific and present at quite high, although not pathogenetic levels, were observed. The results suggest that mitochondrial DNA deletions, and the 'common deletion' in particular, might be a sensitive and early marker of a generalized mitochondrial suffering, due to a variety of pathological and physiological causes.
Lingua originaleEnglish
pagine (da-a)167-170
Numero di pagine4
RivistaFEBS Letters
Volume418
DOI
Stato di pubblicazionePubblicato - 1997

Keywords

  • Deletion
  • Oculopharyngeal muscular dystrophy
  • Mitochondrial suffering
  • Mitochondrial DNA

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