Dna fragmentation in metabolic myopathies

M. C. Monici, A. Toscano, [No Value] Musumeci, M. Aguennouz, G. Vita

Research output: Contribution to journalArticlepeer-review


Apoptosis is a gene-regulated active biochemical response to different stimuli leading to a programmed cell death. In muscle, apoptotic bodies have been described in the nuclei of dystrophin-deficient fibers, in denervation, and in the infiltrating cells and rare non-necrotic fibers in inflammatory myopathies. We tested the possibility that apoptosis is a component of muscle cell death occurring in some metabolic myopathies. Muscle biopsies from 30 patients (10 with mitochondria! respirator}' chain defect, 2 multiple acyl-CoA dehydrogenase deficiency, 2 CPT2 deficiency, 5 acid maltase deficiency, 1 débrancher deficiency, 3 phosphorylase deficiency, 1 phoshorylase b kinase deficiency, 3 primary and 3 secondary myoadenylate deaminase deficiency) were studied using an in-situ kit for the detection of apoptotic cells by light microscopy following the labelling of DNA strand breaks 30-40 % of nuclei with DNA fragmentation were detected in most patients with mitochondria! respiratory chain defects. Evidence of apoptotic bodies was not correlated with presence of degenerating muscle fibers DNA fragmentation in mitochondria! myopathies may be a disease-specific phenomenon, being related to an impaired mitochondria! control of apoptosis.

Original languageEnglish
Pages (from-to)108
Number of pages1
JournalItalian Journal of Neurological Sciences
Issue number4
Publication statusPublished - 1997

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology


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