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Titolo:
Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers
Autore:
Olby, NJ; Sharp, NJH; Anderson, LVB; Kunkel, LM; Bonnemann, CG;
Indirizzi:
N Carolina State Univ, Coll Vet Med, Dept Clin Sci, Raleigh, NC 27606 USA N Carolina State Univ Raleigh NC USA 27606 lin Sci, Raleigh, NC 27606 USA Univ Newcastle Upon Tyne, Sch Med, Dept Neurobiol, Newcastle Upon Tyne NE24HH, Tyne & Wear, England Univ Newcastle Upon Tyne Newcastle Upon Tyne Tyne & Wear England NE2 4HH Childrens Hosp, Div Genet, Boston, MA 02115 USA Childrens Hosp Boston MA USA 02115 Hosp, Div Genet, Boston, MA 02115 USA Childrens Hosp, Dept Neurol, Boston, MA 02115 USA Childrens Hosp Boston MA USA 02115 osp, Dept Neurol, Boston, MA 02115 USA
Titolo Testata:
NEUROMUSCULAR DISORDERS
fascicolo: 1, volume: 11, anno: 2001,
pagine: 41 - 49
SICI:
0960-8966(200101)11:1<41:EOTDCA>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
SKELETAL-MUSCLE; BETA-SARCOGLYCAN; LAMININ ALPHA-2-CHAIN; HEREDITARY MYOPATHY; MISSENSE MUTATIONS; GENE; DEFICIENCY; PROTEIN; IDENTIFICATION; DYSTROBREVIN;
Keywords:
autosomal recessive muscular dystrophy in Labrador retrievers; limb-girdle muscular dystrophy; congenital muscular dystrophy; sarcoglycan; merosin; calpain 3; dysferlin;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
47
Recensione:
Indirizzi per estratti:
Indirizzo: Olby, NJ N Carolina State Univ, Coll Vet Med, Dept Clin Sci, 4700 Hillsborough St, Raleigh, NC 27606 USA N Carolina State Univ 4700 Hillsborough St Raleigh NC USA 27606 A
Citazione:
N.J. Olby et al., "Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers", NEUROMUSC D, 11(1), 2001, pp. 41-49

Abstract

Labrador retrievers suffer from an autosomal recessive muscular dystrophy of unknown aetiology. Dogs affected with this disease develop generalized weakness associated with severe, generalized skeletal muscle atrophy and mild elevations in creatine kinase in the first few months of life. The severity of signs tends to progress over the first year of life but can vary frommild exercise intolerance to non-ambulatory tetraparesis. Beyond 1 year ofage, the signs usually stabilize and although muscle mass does not increase, affected dogs' strength may improve slightly. The pathological changes present on muscle biopsy include marked variation in muscle fibre size with hypertrophied and round atrophied fibres present. There is an increased number of fibres with central nuclei and split fibres can be seen. It has beensuggested that the disorder is a model for limb-girdle muscular dystrophy. In recent years, mutations in genes encoding the proteolytic enzyme, calpain 3, a novel protein named dysferlin, and components of the dystrophin-glycoprotein complex have been identified as causes of autosomal recessive limb-girdle muscular dystrophy. We have evaluated these proteins in normal dogs and in three Labrador retrievers with autosomal recessive muscular dystrophy using immunohistochemistry and Western blot analysis on frozen skeletalmuscle. The results demonstrate that dystrophin, the sarcoglycans, alpha -actinin, dysferlin and calpain 3 are present in the normal and affected dogs. We conclude that this autosomal recessive muscular dystrophy is not due to a deficiency of alpha -actinin, or any of the known autosomal recessive limb-girdle muscular dystrophy proteins, although we cannot rule out a malfunction of any of these proteins. (C) 2001 Elsevier Science B.V. All rightsreserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/20 alle ore 14:30:21