Sewry C A
Department of Paediatrics and Neonatal Medicine, MRC Muscle Cell Biology Group, Imperial College School of Medicine, Hammersmith Hospital, London, UK.
Neuromuscul Disord. 1998 Aug;8(6):394-400. doi: 10.1016/s0960-8966(98)00053-4.
Immunocytochemistry is playing an increasingly important role in the field of congenital myopathies. It is not yet the diagnostic tool that it is for the muscular dystrophies, but nevertheless it provides useful information on the nature of the structural defects that define each congenital myopathy, and on the additional secondary changes that accompany them. Immunocytochemistry may have a role in identifying primary protein defects but this may be dependent on the effect of a mutation on protein expression. Mutations affecting function, rather than expression, of a protein may not be detected by immunocytochemistry. Studies of candidate proteins, such as nebulin in nemaline myopathy, and the ryanodine receptor in central core disease, are, however, in progress, and as more defective genes are identified, and antibodies become available, immunocytochemistry will have an increasingly important role. Myofibrillar components are frequently affected in congenital myopathies and immunocytochemical localisation of their isoforms can reveal the nature of the structural abnormalities, such as rods, cores, and a variety of inclusions. Developmentally regulated proteins such as myosin heavy chains and intermediate filaments are also relevant to the understanding of the maturational process, in particular in myotubular/centronuclear myopathies, and also to the plasticity of muscle fibre types. Immunocytochemistry will continue to play an active role in studies of congenital myopathies and provide insight into their pathogenesis.
免疫细胞化学在先天性肌病领域正发挥着越来越重要的作用。它尚未成为像用于诊断肌营养不良症那样的诊断工具，但尽管如此，它能提供有关界定每种先天性肌病的结构缺陷本质以及伴随这些缺陷的其他继发性变化的有用信息。免疫细胞化学可能在识别原发性蛋白质缺陷方面发挥作用，但这可能取决于突变对蛋白质表达的影响。影响蛋白质功能而非表达的突变可能无法通过免疫细胞化学检测到。然而，针对候选蛋白质的研究正在进行中，例如杆状体肌病中的伴肌动蛋白以及中央轴空病中的兰尼碱受体，随着更多缺陷基因被识别以及相应抗体问世，免疫细胞化学将发挥越来越重要的作用。先天性肌病中肌原纤维成分经常受到影响，其同工型的免疫细胞化学定位能够揭示结构异常的本质，如杆状体、轴空以及各种包涵体。诸如肌球蛋白重链和中间丝等受发育调控的蛋白质对于理解成熟过程也具有重要意义，特别是在肌管型/中央核性肌病中，同时也与肌纤维类型的可塑性相关。免疫细胞化学将继续在先天性肌病研究中发挥积极作用，并为其发病机制提供深入见解。
