title: Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy.
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 alpha-actinin and desmin in combination with a modified Gomori trichrome method. Electron microscopy of immunolabelled resin embedded sections was used for cytochemical localisation of alpha-actinin and desmin. Light microscopy of sections immunolabelled for alpha-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 alpha-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 alpha-actinin bands indistinguishable from normal. Our results provide direct evidence for the presence of alpha-actinin in nemaline bodies and a lack of quantitative or qualitative differences between the alpha-actinin of normal and CNM muscle.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, U.K.
authors.forename: C
authors.initials: C
authors.lastname: Wallgren-Pettersson
authors.forename: B
authors.initials: B
authors.lastname: Jasani
authors.forename: G R
authors.initials: GR
authors.lastname: Newman
authors.forename: G E
authors.initials: GE
authors.lastname: Morris
authors.forename: S
authors.initials: S
authors.lastname: Jones
authors.forename: S
authors.initials: S
authors.lastname: Singhrao
authors.forename: A
authors.initials: A
authors.lastname: Clarke
authors.forename: I
authors.initials: I
authors.lastname: Virtanen
authors.forename: C
authors.initials: C
authors.lastname: Holmberg
authors.forename: J
authors.initials: J
authors.lastname: Rapola
mesh_terms: D000185:Actinin / Q000032:analysis*; D000328:Adult; D000911:Antibodies, Monoclonal; D001706:Biopsy; D015153:Blotting, Western; D003893:Desmin / Q000032:analysis; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D002479:Inclusion Bodies / Q000737:chemistry* / Q000648:ultrastructure; D008854:Microscopy, Electron; D008970:Molecular Weight; D018485:Muscle Fibers, Skeletal / Q000473:pathology / Q000648:ultrastructure; D017696:Myopathies, Nemaline / Q000378:metabolism* / Q000473:pathology*
chemical_list: D000911:Antibodies, Monoclonal; D003893:Desmin; D000185:Actinin