Muscle mitochondria investigation in myotonic dystrophy

G. Vita, A. Toscano, A. Prelle, A. Bordoni, N. Checcarelli, N. Bresolin, A. Baradello, C. Messina

Research output: Contribution to journalArticle

Abstract

Mitochondrial abnormalities have been previously reported in some patients with myotonic dystrophy (DM). The aim of the present paper was to study muscle mitochondria in 32 DM patients by morphological, biochemical (when suggested by morphology) and genetic analysis. A single ragged red fiber, but no cytochrome c oxidase-negative fibers were found in the muscle specimen of I patient. However, mitochondrial enzyme activities resulted within the normal range. An electron microscopy study showed no significant mitochondrial changes. Southern blot analysis did not reveal any mitochondrial DNA heteroplasmy in all 32 patients. An explanation for the discordant results between this study and some previous reports of mitochondrial alterations in DM might be that their occasional presence is not related to the disease but to ageing. Another possibility is that among patients with a myotonic dystrophy phenotype, a small subgroup of subjects with a mitochondrial disease may exist and be differentiated.

Original languageEnglish
Pages (from-to)423-427
Number of pages5
JournalEuropean Neurology
Volume33
Issue number6
Publication statusPublished - 1993

    Fingerprint

Keywords

  • Biochemistry
  • Mitochondrial DNA
  • Morphology
  • Muscle mitochondria
  • Myotonic dystrophy

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Vita, G., Toscano, A., Prelle, A., Bordoni, A., Checcarelli, N., Bresolin, N., Baradello, A., & Messina, C. (1993). Muscle mitochondria investigation in myotonic dystrophy. European Neurology, 33(6), 423-427.