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

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• 作者：Broccolini ; Aldobrando ; Gliubizzi ; Carla ; Pavoni ; Ernesto ; Gidaro ; Teresa ; Morosetti ; Roberta ; et. al.
• 关键词：Inclusion body myopathy ; HIBM ; GNE ; Dystrophin-glycoprotein complex ; Dystroglycan
• 刊名：Neuromuscular Disorders
• 出版年：2005
• 出版时间：February, 2005
• 年：2005
• 卷：15
• 期：2
• 页码：177-184
• 全文大小：283 K

文摘

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 α-dystroglycan (α-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 α-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 α-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 α-DG, did not affect the laminin binding properties of α-DG. Therefore, the subtle changes within the α-DG glycosylation pattern, detected in HIBM muscles, likely do not play a key pathogenic role in this disorder.