Telethonin protein expression in neuromuscular disorders

Show simple item record Vainzof, Mariz Moreira, Eloisa de Sá Suzuki, Oscar Takeo Faulkner, Georgine Valle, Georgio Beggs, Alan H. Carpen, Olli Ribeiro, Alberto F. Zanoteli, Edmar [UNIFESP] Gurgel-Gianneti, Juliana Tsanaclis, Ana Maria Crous Silva, Helga Cristina Almeida da [UNIFESP] Passos-Bueno, Maria Rita Zatz, Mayana 2016-01-24T12:33:33Z 2016-01-24T12:33:33Z 2002-10-09
dc.identifier.citation Biochimica Et Biophysica Acta-molecular Basis of Disease. Amsterdam: Elsevier B.V., v. 1588, n. 1, p. 33-40, 2002.
dc.identifier.issn 0925-4439
dc.description.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. en
dc.format.extent 33-40
dc.language.iso eng
dc.publisher Elsevier B.V.
dc.relation.ispartof Biochimica Et Biophysica Acta-molecular Basis of Disease
dc.rights Acesso aberto
dc.subject telethonin en
dc.subject limb-girdle muscular dystrophy en
dc.subject limb-girdle muscular dystrophy type 2G en
dc.subject neuromuscular disorder en
dc.subject muscular dystrophy en
dc.subject protein study en
dc.title Telethonin protein expression in neuromuscular disorders en
dc.type Artigo
dc.contributor.institution Universidade de São Paulo (USP)
dc.contributor.institution Int Ctr Genet Engn & Biotechnol
dc.contributor.institution Univ Padua
dc.contributor.institution Harvard Univ
dc.contributor.institution Univ Helsinki
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.description.affiliation Univ São Paulo, Ctr Study Human Genome, Dept Biol, IBUSP, BR-05508900 São Paulo, Brazil
dc.description.affiliation Int Ctr Genet Engn & Biotechnol, Tieste, Italy
dc.description.affiliation Univ Padua, CRIBI Biotechnol Ctr, I-35121 Padua, Italy
dc.description.affiliation Harvard Univ, Childrens Hosp, Sch Med, Div Genet, Boston, MA 02115 USA
dc.description.affiliation Univ Helsinki, Helsinki, Finland
dc.description.affiliation UNIFESP, Dept Neurol, São Paulo, Brazil
dc.description.affiliation FMUSP, Dept Neurol, São Paulo, Brazil
dc.description.affiliation FMUSP, Dept Pathol, São Paulo, Brazil
dc.description.affiliationUnifesp UNIFESP, Dept Neurol, São Paulo, Brazil
dc.identifier.file WOS000178746000005.pdf
dc.identifier.doi 10.1016/S0925-4439(02)00113-8
dc.description.source Web of Science
dc.identifier.wos WOS:000178746000005


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