Mitochondrial DNA deletions in oculopharyngeal muscular dystrophy

FEBS Letters

Lezza, Angela M.S¹  Gerardi, Patrizia¹  Cormio, Antonella¹  Gadaleta, Maria Nicola¹  Servidei, Serena²  Serlenga, Luigi³  Silvestri, Gabriella²  Cantatore, Palmiro¹ 

[1] Department of Biochemistry and Molecular Biology and CNR Unit for the Study of Mitochondria and Energetic Metabolism, University of Bari, Via Orabona, 4, 70125 Bari, Italy;Institute of Neurology, Catholic University, L.go Vito 1, 00168 Rome, Italy;Institute of Neurology, University of Bari, P.zza G. Cesare, 70124 Bari, Italy

关键词: Mitochondrial DNA;    Deletion;    Oculopharyngeal muscular dystrophy;    Mitochondrial suffering;   

DOI  :  10.1016/S0014-5793(97)01374-4

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

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.

【 授权许可】

Unknown