Telethonin protein expression in neuromuscular disorders

Telethonin protein expression in neuromuscular disorders

Author Vainzof, Mariz Google Scholar
Moreira, Eloisa de Sá Google Scholar
Suzuki, Oscar Takeo Google Scholar
Faulkner, Georgine Google Scholar
Valle, Georgio Google Scholar
Beggs, Alan H. Google Scholar
Carpen, Olli Google Scholar
Ribeiro, Alberto F. Google Scholar
Zanoteli, Edmar Autor UNIFESP Google Scholar
Gurgel-Gianneti, Juliana Google Scholar
Tsanaclis, Ana Maria Crous Google Scholar
Silva, Helga Cristina Almeida da Autor UNIFESP Google Scholar
Passos-Bueno, Maria Rita Google Scholar
Zatz, Mayana Google Scholar
Institution Universidade de São Paulo (USP)
Int Ctr Genet Engn & Biotechnol
Univ Padua
Harvard Univ
Univ Helsinki
Universidade Federal de São Paulo (UNIFESP)
Abstract Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles. Mutations in the telethonin gene cause limb-girdle muscular dystrophy type 2G (LGMD2G). We investigated the sarcomeric integrity of muscle fibers in LGMD2G patients, through double immunofluorescence analysis for telethonin with three sarcomeric proteins: titin, alpha-actinin-2, and myotilin and observed the typical cross striation pattern, suggesting that the Z-line of the sarcomere is apparently preserved, despite the absence of telethonin. Ultrastructural analysis confirmed the integrity of the sarcomeric architecture. the possible interaction of telethonin with other proteins responsible for several forms of neuromuscular disorders was also analyzed. Telethonin was clearly present in the rods in nemaline myopathy (NM) muscle fibers, confirming its localization to the Z-line of the sarcomere. Muscle from patients with absent telethonin showed normal expression for the proteins dystrophin, sarcoglycans, dysferlin, and calpain-3. Additionally, telethonin showed normal localization in muscle biopsies from patients with LGMD2A, LGMD2B, sarcoglycanopathies, and Duchenne muscular dystrophy (DMD). Therefore, the primary deficiency of calpain-3, dysferlin, sarcoglycans, and dystrophin do not seem to alter telethonin expression. (C) 2002 Elsevier Science B.V. All rights reserved.
Keywords telethonin
limb-girdle muscular dystrophy
limb-girdle muscular dystrophy type 2G
neuromuscular disorder
muscular dystrophy
protein study
Language English
Date 2002-10-09
Published in Biochimica Et Biophysica Acta-molecular Basis of Disease. Amsterdam: Elsevier B.V., v. 1588, n. 1, p. 33-40, 2002.
ISSN 0925-4439 (Sherpa/Romeo, impact factor)
Publisher Elsevier B.V.
Extent 33-40
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000178746000005

Show full item record


Name: WOS000178746000005.pdf
Size: 361.2Kb
Format: PDF
Open file

This item appears in the following Collection(s)




My Account