Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene

Gigliola Fagiolari, Monica Sciacco, Luca Chiveri, Costanza Lamperti, Giacomo Pietro Comi, Guglielmo Scarlato, Maurizio Moggio, Alessandro Prelle

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)265-269
Number of pages5
JournalMuscle and Nerve
Volume26
Issue number2
DOIs
Publication statusPublished - 2002

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Keywords

  • Apoptosis
  • Autosomal dominant progressive external ophthalmoplegia
  • Electron microscopy
  • Immunohistochemistry
  • Mitochondrial encephalomyopathies

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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