MITOCHONDRIAL-DNA DELETIONS IN OCULOPHARYNGEAL MUSCULAR-DYSTROPHY

The deletions in the mitochondrial DNA from skeletal muscle samples of two oculopharyngeal muscular dystrophy cases were studied using polym erase chain reaction techniques, The 4977 bp 'common deletion' was pre sent in both specimens, exceeding the corresponding values of similarl y aged, healthy controls, In the two samples multiple different mitoch ondrial DIVA deletions, some case-specific and present at quite high, although not pathogenetic levels, were observed, The results suggest t hat mitochondrial DNA deletions, and the 'common deletion' in particul ar, might be a sensitive and early marker of a generalized mitochondri al suffering, due to a variety of pathological and physiological cause s. (C) 1997 Federation of European Biochemical Societies.