Krause S, Aleo A, Hinderlich S, Merlini L, Tournev I, Walter M C, Argov Z, Mitrani-Rosenbaum S, Lochmüller H
Friedrich Baur Institute and Department of Neurology, Ludwig Maximilians University, Munich, Germany.
Neurology. 2007 Aug 14;69(7):655-9. doi: 10.1212/01.wnl.0000267426.97138.fd.
Mutations in GNE encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) cause hereditary inclusion body myopathy (HIBM). To define the role of GNE mutations in HIBM pathogenesis, GNE protein expression was analyzed. GNE protein is expressed at equal levels in HIBM patients and normal control subjects. Immunofluorescence detection of GNE did not reveal any mislocalization of GNE in skeletal muscle. We conclude that impaired GNE function, not lack of expression, may be the key pathogenic factor in HIBM. For diagnostic purposes, direct genetic analysis of the GNE gene in patients with IBM will remain the mainstay and is not aided by immunohistochemistry or immunoblotting using antibodies against the GNE protein.
编码UDP-N-乙酰葡糖胺2-表异构酶/N-乙酰甘露糖胺激酶（GNE）的基因发生突变会导致遗传性包涵体肌病（HIBM）。为了明确GNE突变在HIBM发病机制中的作用，对GNE蛋白表达进行了分析。GNE蛋白在HIBM患者和正常对照受试者中的表达水平相等。对GNE进行免疫荧光检测未发现其在骨骼肌中有任何定位错误。我们得出结论，GNE功能受损而非表达缺失可能是HIBM的关键致病因素。出于诊断目的，对IBM患者进行GNE基因的直接基因分析仍将是主要手段，使用针对GNE蛋白的抗体进行免疫组织化学或免疫印迹分析对此并无帮助。
