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Titolo:
Dysferlin protein analysis in limb-girdle muscular dystrophies
Autore:
Vainzof, M; Anderson, LVB; McNally, EM; Davis, DB; Faulkner, G; Valle, G; Moreira, ES; Pavanello, RCM; Passos-Bueno, MR; Zatz, M;
Indirizzi:
Univ Sao Paulo, Dept Biol, IB, Ctr Estudos Genoma Humano, Sao Paulo, Brazil Univ Sao Paulo Sao Paulo Brazil studos Genoma Humano, Sao Paulo, Brazil Univ Newcastle Upon Tyne, Dept Neurobiol, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England Univ Newcastle Upon Tyne Newcastle Upon Tyne Tyne & WearEngland NE1 7RU Univ Chicago, Dept Med & Human Genet, Chicago, IL 60637 USA Univ Chicago Chicago IL USA 60637 ed & Human Genet, Chicago, IL 60637 USA Int Ctr Genet Engn & Biotechnol, I-34012 Trieste, Italy Int Ctr Genet Engn& Biotechnol Trieste Italy I-34012 012 Trieste, Italy Univ Padua, CRIBI Biotechnol Ctr, I-35121 Padua, Italy Univ Padua Padua Italy I-35121 RIBI Biotechnol Ctr, I-35121 Padua, Italy
Titolo Testata:
JOURNAL OF MOLECULAR NEUROSCIENCE
fascicolo: 1, volume: 17, anno: 2001,
pagine: 71 - 80
SICI:
0895-8696(200108)17:1<71:DPAILM>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
MIYOSHI MYOPATHY; BETA-SARCOGLYCAN; GENETIC-HETEROGENEITY; BRAZILIAN POPULATION; MISSENSE MUTATIONS; LINKAGE ANALYSIS; MAPS; GLYCOPROTEIN; DEFICIENCY; COMPLEX;
Keywords:
limb-girdle MD; dysferlin; LGMD2B;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
48
Recensione:
Indirizzi per estratti:
Indirizzo: Vainzof, M Univ Sao Paulo, Dept Biol, IB, Ctr Estudos Genoma Humano, R Matao 106, SaoPaulo, Brazil Univ Sao Paulo R Matao 106 Sao Paulo Brazil SaoPaulo, Brazil
Citazione:
M. Vainzof et al., "Dysferlin protein analysis in limb-girdle muscular dystrophies", J MOL NEURO, 17(1), 2001, pp. 71-80

Abstract

Dysferlin is the protein product of the DYSF gene mapped at 2p31, which mutations cause limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi myopathy. To date, nine autosomal recessive forms (AR-LGMD) have been identified: four genes, which code for the sarcoglycan glycoproteins, are associated with both mild and severe forms, the sarcoglycanopathies (LGMD2C, 2D, 2E and 2F). The other five forms, usually causing a milder phenotype are LGMD2A (calpain 3), LGMD2B (dysferlin), LGMD2G (telethonin), LGMD2H (9q31-11),and LGMD2I (19q13.3). We studied dysferlin expression in a total of 176 patients, from 166 LGMD families: 12 LGMD2B patients, 70 with other known forms of muscular dystrophies (LGMD2A, sarcoglycanopathies, LGMD2G), in an attempt to assess the effect of the primary gene-product deficiency on dysferlin. In addition, 94 still unclassified LGMD families were screened for dysferlin deficiency. In eight LGMD2B patients from five families, no dysferlin was observed in muscle biopsies, both through immunofluorescence (IF) and Western blot methodologies, while in two families, a very faint band was detected. Both patterns, negative or very faint bands, were concordant in patients belonging to the same families, suggesting that dysferlin deficiency is specific to LGMD2B. Myoferlin, the newly identified homologue of dysferlin was studied for thefirst time in LGMD2B patients. Since no difference was observed between patients mildly and severely affected, this protein do not seem to modify thephenotype in the present dysferlin-deficient patients. Dystrophin, sarcoglycans, and telethonin were normal in all LGMD2B patients, while patients with sarcoglycanopathies. (2C, 2D, and 2E), LGMD2A, LGMD2G, and DMD showed the presence of a normal dysferlin band by Western blot and a positive pattern on IR These data suggest that there is no interactionbetween dysferlin and these proteins. However, calpain analysis showed a weaker band in four patients from two families with intra-familial concordance. Therefore, this secondary deficiency of calpain in LGMD2B families, mayindicate an interaction between dysferlin and calpain in muscle. Dysferlin was also present in cultured myotubes, in chorionic villus, and in the skin. Dysferlin deficiency was found in 24 out of a total of 166 Brazilian AR-LGMD families screened for muscle proteins (similar to 14%), thus representing the second most frequent known LGMD form, after calpainopathy, in our population.

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Documento generato il 06/07/20 alle ore 05:32:44