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

Aldobrando Broccolini, Enzo Ricci, Massimiliano Mirabella, Carla Gliubizzi, Ernesto Pavoni, Teresa Gidaro, Roberta Morosetti, Bruno Giardina, Pietro Attilio Tonali, Andrea Brancaccio, Francesca Sciadra

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

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
Lingua originaleEnglish
pagine (da-a)177-184
Numero di pagine8
RivistaNeuromuscular Disorders
Stato di pubblicazionePubblicato - 2005

Keywords

  • HIBM

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