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DNA single-strand breaks are increased in muscle diseases with rimmed vacuoles

M Tateyama1, M Tobita, A Takeda

  • 1Department of Neurology, Tohoku University School of Medicine, Sendai, Japan. mtateyama@neurol.med.tohoku.ac.jp

Acta Neuropathologica
|September 14, 2000
PubMed

Insights

Researchers investigated DNA damage in muscle diseases, finding increased single-strand breaks (SSB) in polymyositis and rimmed vacuole (RV) diseases. This suggests a potential shared DNA damage pathway in these muscle conditions.

Area of Science:

  • Neurology
  • Pathology
  • Molecular Biology

Background:

  • Pathological similarities exist between Alzheimer's disease and muscle diseases with rimmed vacuoles (RV).
  • Hallmark proteins are found in lesions of both Alzheimer's disease and RV diseases.
  • DNA damage is implicated in Alzheimer's disease pathogenesis.

Purpose of the Study:

  • To investigate the presence of DNA double-strand breaks (DSB) and single-strand breaks (SSB) in muscle biopsy specimens.
  • To compare DNA damage levels in muscle diseases with RV to other muscle conditions, including polymyositis.
  • To explore potential shared pathological mechanisms involving DNA damage.

Main Methods:

  • Examination of muscle biopsy specimens from patients with various muscle diseases, including those with RV.
  • Assay for DNA double-strand breaks (DSB) and single-strand breaks (SSB) in myonuclei.
  • Histopathological analysis to correlate DNA breaks with muscle fiber characteristics (regeneration, inflammation, morphology).

Main Results:

  • No DNA double-strand breaks (DSB) were detected in any examined muscle samples.
  • A significant increase in single-strand breaks (SSB)-positive myonuclei was observed in polymyositis and muscle diseases with RV.
  • In polymyositis, SSB were associated with regenerating fibers and inflammation; in RV diseases, SSB occurred in various fiber types, independent of inflammation or regeneration.

Conclusions:

  • Muscle diseases with rimmed vacuoles (RV) exhibit increased single-strand breaks (SSB), suggesting a role for DNA damage in their pathology.
  • The pattern of SSB in RV diseases differs from polymyositis, indicating distinct underlying mechanisms.
  • These findings suggest that muscle diseases with RV may share a common pathological process involving DNA damage with other neurodegenerative conditions.

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