title: Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene.
abstract: Adenine nucleotide translocator-1 (ANT-1), encoded by chromosome 4 (4q34-35 locus), is a component of the mitochondrial permeability transition pores that are involved in apoptotic mechanisms. We studied muscle biopsies from seven individuals with autosomal dominant progressive external ophthalmoplegia caused by ANT-1 mutations. We found no instance of terminal deoxynucleotidyltransferase-mediated dUTP nick end labeling (TUNEL) positivity nor significant expression of apoptosis-related proteins. Furthermore, there was no morphological evidence of apoptosis at the ultrastructural level. Thus, degeneration of muscle in this disorder is nonapoptotic.
authors.affiliation: Centro Dino Ferrari, Department of Neurological Sciences, University of Milan, Ospedale Maggiore, Policlinico IRCCS, Via F. Sforza 35, 20122 Milan, Italy.
authors.forename: Gigliola
authors.initials: G
authors.lastname: Fagiolari
authors.forename: Monica
authors.initials: M
authors.lastname: Sciacco
authors.forename: Luca
authors.initials: L
authors.lastname: Chiveri
authors.forename: Costanza
authors.initials: C
authors.lastname: Lamperti
authors.forename: Giacomo Pietro
authors.initials: GP
authors.lastname: Comi
authors.forename: Guglielmo
authors.initials: G
authors.lastname: Scarlato
authors.forename: Maurizio
authors.initials: M
authors.lastname: Moggio
authors.forename: Alessandro
authors.initials: A
authors.lastname: Prelle
mesh_terms: D000328:Adult; D000368:Aged; D017209:Apoptosis; D005260:Female; D006801:Humans; D020287:In Situ Nick-End Labeling; D008297:Male; D008875:Middle Aged; D000226:Mitochondrial ADP, ATP Translocases / Q000235:genetics*; D018485:Muscle Fibers, Skeletal / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D017246:Ophthalmoplegia, Chronic Progressive External / Q000209:etiology / Q000235:genetics* / Q000473:pathology*; D010641:Phenotype
chemical_list: D000226:Mitochondrial ADP, ATP Translocases