Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy

Carina Wallgren-Pettersson, Bharat Jasani, Geoffrey R. Newman, Glenn E. Morris, Sally Jones, Sim Singhrao, Angus Clarke, Ismo Virtanen, Christer Holmberg, Juhani Rapola

Research output: Contribution to journalArticlepeer-review

46 Citations (Scopus)

Abstract

To elucidate the protein composition of the nemaline bodies present in the muscle fibres of patients with congenital nemaline myopathy (CNM), we studied muscle biopsies with monoclonal antibodies against α-actinin and desmin in combination with a modified Gomori trichrome method. Electron microscopy of immunolabelled resin embedded sections was used for cytochemical localisation of a-actinin and desmin. Light microscopy of sections immunolabelled for a-actinin showed a cross-striation of the muscle fibres corresponding to the Z band pattern, focal thickening of the Z bands and additional reactivity with a granular pattern corresponding to the presence of nemaline bodies. Labelling of desmin did not show a similar pattern. Electron microscopy confirmed the presence of α-actinin in the nemaline bodies and Z bands, whereas desmin was only found in intermediate filaments around the Z bands. Western blots showed single, sharp α-actinin bands indistinguishable from normal. Our results provide direct evidence for the presence of α-actinin in nemaline bodies and a lack of quantitative or qualitative differences between the α-actinin of normal and CNM muscle.

Original languageEnglish
Pages (from-to)93-104
Number of pages12
JournalNeuromuscular Disorders
Volume5
Issue number2
DOIs
Publication statusPublished - Mar 1995

Keywords

  • Neuromuscular disorders
  • congenital myopathies
  • desmin
  • dystrophin
  • electron microscopy
  • immunohistochemistry
  • nemaline (rod) myopathy
  • western blot
  • α-actinin

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

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