Neuromuscul Disord. 2005 Feb;15(2):177-84. Epub 2004 Dec 10.

alpha-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy.

Broccolini A, Gliubizzi C, Pavoni E, Gidaro T, Morosetti R, Sciandra F, Giardina B, Tonali P, Ricci E, Brancaccio A, Mirabella M.

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Department of Neuroscience, Catholic University, L.go A. Gemelli 8, 00168 Rome, Italy.

Abstract

Mutations of the GNE gene are responsible for autosomal recessive hereditary inclusion-body myopathy (HIBM). In this study we searched for the presence of any significant abnormality of alpha-dystroglycan (alpha-DG), a highly glycosylated component of the dystrophin-glycoprotein complex, in 5 HIBM patients which were previously clinically and genetically characterized. Immunocytochemical and immunoblot analysis showed that alpha-DG extracted from muscle biopsies was normally expressed and displayed its typical molecular mass. Immunoblot analysis on the wheat germ lectin-enriched glycoprotein fraction of muscles and primary myotubes showed a reduced amount of alpha-DG in 4 out of 5 HIBM patients, compared to normal and other diseased muscles. However, such altered lectin-binding behaviour, possibly reflecting a partial hyposialylation of alpha-DG, did not affect the laminin binding properties of alpha-DG. Therefore, the subtle changes within the alpha-DG glycosylation pattern, detected in HIBM muscles, likely do not play a key pathogenic role in this disorder.

PMID:: 15694140; [PubMed - indexed for MEDLINE]

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