Electron microscopy in neuromuscular disorders
Electron microscopy in neuromuscular disorders
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DOI：
10.1080/01913120500323175
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发表时间：
2005-11-01
影响因子：
1
通讯作者：
Pellissier, JF
中科院分区：
文献类型：
--
作者：
Fernandez, C;Figarella-Branger, D;Pellissier, JF
电子显微镜在神经肌肉疾病的诊断中具有战略地位。在肌纤维中，主要异常包括空泡、包涵体和肌原纤维解体，伴或不伴异常包涵体。细胞色素改变包括胞浆和糖原储存空泡、镶边空泡以及溶酶体和自噬空泡。在线状体肌病、放线菌病和透明体肌病中发现异常包涵体物质的积聚。肌原纤维紊乱涉及核心、多微核心和肌球蛋白链缺失。肌原纤维肌病与肌原纤维溶解和异位蛋白表达的病理模式相关。它们可以分为两组：具有多种表达蛋白的肌原纤维肌病和仅具有结蛋白和α β-晶体蛋白表达的肌原纤维肌病。在这两种条件下，电子显微镜显示结蛋白免疫反应性颗粒丝状物质的积累。至少有三个基因涉及：结蛋白，α β-晶体蛋白和肌球蛋白。最后，电子显微镜用于识别变化。致病性或非致病性，这些在光学显微镜下无法显示。此外，电子显微镜可以深入了解病理生理机制，并可以指导分子遗传学分析。
Electron microscopy has a strategic position in the diagnosis of neuromuscular disorders. In muscular fibers, the main abnormalities include vacuoles, inclusion bodies, and myofibrillar disorganization with or without abnormal inclusion material. Vacuolar changes include lipidic and glycogenic storage vacuoles, rimmed vacuoles, and lysosomal and autophagic vacuoles. Accumulation of abnormal inclusion material is found in nemaline myopathy, actinopathies, and hyaline body myopathy. Myofibrillar disorganization involves cores, multiminicores, and myosin chain depletion. Myofibrillar myopathies associate a pathologic pattern of myofibrillar dissolution and ectopic protein expression. They can be divided into two groups: myofibrillar myopathies with multiple expression proteins and myofibrillar myopathies with desmin and alpha beta-crystallin expression only. in these two conditions, electron microscopy shows accumulation of a granulofilamentous material immunoreactive for desmin. At least three genes are implicated: desmin, alpha beta-crystallin, and myotilin. Lastly, electron microscopy serves to identify changes,. pathogenic or not, which are not shown up by light microscopy. Moreover, electron microscopy gives insight on pathophysiological mechanisms and can Guide molecular genetics analysis.