Nebulin expression in patients with nemaline myopathy

Nebulin expression in patients with nemaline myopathy

Author Gurgel-Giannetti, J. Google Scholar
Reed, U. Google Scholar
Bang, M. L. Google Scholar
Pelin, K. Google Scholar
Donner, K. Google Scholar
Marie, S. K. Google Scholar
Carvalho, M. Google Scholar
Fireman, MAT Google Scholar
Zanoteli, E. Google Scholar
Oliveira, ASB Google Scholar
Zatz, M. Google Scholar
Wallgren-Pettersson, C. Google Scholar
Labeit, S. Google Scholar
Vainzof, M. Google Scholar
Institution Universidade de São Paulo (USP)
European Mol Biol Lab
Univ Helsinki
Universidade Federal de São Paulo (UNIFESP)
Abstract Nemaline myopathy is a structural congenital myopathy which may show both autosomal dominant and autosomal recessive inheritance patterns. Mutations in three different genes have been identified as the cause of nemaline myopathy: the gene for slow alpha -tropomyosin 3 (TPM3) at 1q22-23, the nebulin gene (NEB) at 2q21.1-q22, and the actin gene (ACTA1) at 1q42. the typical autosomal recessive form appears to be the most common one and is caused by mutations in the nebulin gene. We have studied the pattern of nebulin labeling, in patients with the typical congenital form (ten patients), the severe congenital form (two patients) or the mild, childhood-onset form tone patient), using antibodies against three different domains of nebulin. A qualitative and quantitative nebulin analysis in muscle tissue showed the presence of nebulin in myofibers from all patients. Some differences relating to the rod structure were observed. the majority of the lar est subsarcolemmal rods were not labeled with the N2 nebulin antibody (I-band epitope) and showed an indistinct pattern with the two antibodies directed to the Z-band portion of nebulin (epitopes M176-181 and serine-rich domain). Diffuse rods were not revealed using the three antibodies. A discordant pattern of nebulin N2 epitope labeling was found in two affected sisters with a mutation in the nebulin gene, suggesting that modifications in nebulin distribution inside the rods might occur with the progression of the disease. Western blot analysis showed no direct correlation with immunofluorescence data. in nine patients, the band had a molecular weight comparable to the normal control, while in one patient, it was detected with a higher molecular weight. Our results suggest that presence/absence of specific nebulin Z-band epitopes in rod structures is variable and could depend on the degree of rod organization. (C) 2001 Elsevier Science B.V. All rights reserved.
Keywords nemaline myopathy
congenital myopathy
Language English
Date 2001-03-01
Published in Neuromuscular Disorders. Oxford: Pergamon-Elsevier B.V., v. 11, n. 2, p. 154-162, 2001.
ISSN 0960-8966 (Sherpa/Romeo, impact factor)
Publisher Elsevier B.V.
Extent 154-162
Access rights Closed access
Type Article
Web of Science ID WOS:000168065300004

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