Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene
Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene
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DOI：
10.1016/j.nmd.2008.06.367
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发表时间：
2008-08-01
影响因子：
2.8
通讯作者：
Stoltenburg, G.
中科院分区：
文献类型：
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作者：
Claeys, K. G.;Fardeau, M.;Stoltenburg, G.
我们研究了肌原纤维性肌病（MFM）患者的超微结构特征，并使用电子显微镜（EM）结果区分MFM亚型。本文分析了19例不同遗传学证实的MFM（结蛋白9例，α B-晶体蛋白5例，ZASP 3例，肌球蛋白2例）的超微结构。在一例ZASPopathy中，我们还使用抗脱白蛋白、α B-晶状体蛋白、ZASP和肌球蛋白的抗体进行了免疫EM研究。结蛋白病和α B-stac病的超微结构结果非常相似，包括电子致密颗粒丝状积聚和三明治形成。他们的不同之处在于α B-stac病中明显存在早期凋亡性核变化。ZASPopathies的特征在于丝状束（在免疫电镜上用肌球蛋白抗体标记）和薄丝状物质的絮状积累。肌球蛋白病的特征是肌浆和肌核中的管状丝状包涵体和丝状束。我们的结论是，MFM超微结构的结果可以直接对致病基因突变的诊断工作，EM应包括在诊断后处理的MFM。(C)2008 Elsevier B. V.保留所有权利。
We studied the ultrastructural characteristics in patients with myofibrillar myopathy (MFM) and differentiated between MFM-subtypes using electron microscopic (EM) findings. The ultrastructural findings in 19 patients with different genetically proven MFMs (9 desmin, 5 alpha B-crystallin, 3 ZASP, 2 myotilin) were analyzed. In one ZASPopathy, we additionally performed an immunoEM study, using antibodies against desumin, alpha B-crystallin, ZASP and myotilin. The ultrastructural findings in desminopathies and alpha B-crystallinopathies were very similar and consisted of electrondense granulofilamentous accumulations and sandwich formations. They differed in the obvious presence of early apoptotic nuclear changes in alpha B-crystallinopathies. ZASPopathies were characterized by filamentous bundles (labeled with the myotilin antibody on immunoEM), and floccular accumulations of thin filamentous material. Tubulofilamentous inclusions in sarcoplasm and myonuclei in combination with filamentous bundles were characteristic for myotilinopathies. We conclude that MFMS Ultrastructural findings can direct diagnostic efforts towards the causal gene mutated, and that EM should be included in the diagnostic workup of MFMs. (C) 2008 Elsevier B.V. All rights reserved.