Suzuki Y
Tokyo Metropolitan Institute of Medical Science.
Nihon Rinsho. 1993 Sep;51(9):2264-8.
Lysosomal storage disease is a group of neurometabolic diseases mainly occurring in infancy and childhood. They were first recognized as new diseases on the basis of unique clinical manifestations or pathological findings, and then the stage of biochemical analysis of storage material and enzyme assays in tissues and cells from patients followed. Recent technological development has enabled us to look further into the molecular genetic basis of these inherited diseases. Protein analysis revealed intracellular events of the mutant enzyme molecule responsible for the pathogenesis of a disease, and more detailed information has been obtained about the mutant gene and its product. Clinical manifestations are not always uniform for a single disease with mutations in the same gene. Clinical subtypes have been proposed for many lysosomal diseases. At present, the molecular and metabolic basis of each phenotypic expression is not clear, although common mutations have been found for specific clinical forms in some diseases. In this article, the current status of lysosomal disease research was summarized, particularly focusing on molecular pathology and molecular diagnosis. Finally future prospects for pathogenetic analysis of neural dysfunction and possible gene therapy were briefly discussed.
溶酶体贮积病是一组主要发生于婴幼儿期的神经代谢性疾病。它们最初是基于独特的临床表现或病理发现而被确认为新疾病，随后进入对患者组织和细胞中贮积物质进行生化分析及酶检测的阶段。最近的技术发展使我们能够更深入地探究这些遗传性疾病的分子遗传学基础。蛋白质分析揭示了导致疾病发病机制的突变酶分子的细胞内事件，并且已经获得了关于突变基因及其产物的更详细信息。对于同一基因发生突变的单一疾病，其临床表现并不总是一致的。许多溶酶体疾病都提出了临床亚型。目前，尽管在某些疾病中已发现特定临床形式的常见突变，但每种表型表达的分子和代谢基础尚不清楚。在本文中，总结了溶酶体疾病研究的现状，尤其侧重于分子病理学和分子诊断。最后简要讨论了神经功能障碍发病机制分析的未来前景以及可能的基因治疗。
