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

Wallgren-Pettersson, Carina, Jasani, Bharat, Newman, Geoffrey Richard, Morris, Glenn E., Jones, Sally, Singhrao, Sim, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Virtanen, Ismo, Holmberg, Christer and Rapola, Juhani 1995. Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy. Neuromuscular Disorders 5 (2) , pp. 93-104. 10.1016/0960-8966(94)00035-8

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Subjects:	R Medicine > R Medicine (General)
Uncontrolled Keywords:	Neuromuscular disorders; congenital myopathies; nemaline (rod) myopathy; immunohistochemistry; western blot; electron microscopy; α-actinin; desmin; dystrophin.
Publisher:	Elsevier
ISSN:	0960-8966
Last Modified:	18 Mar 2023 02:08
URI:	https://orca.cardiff.ac.uk/id/eprint/60431

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