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Description of  Lysosomal Storage Diseases: Pathobiology and Therapeutic Consideration

In the current publication, the aim will be to summarize the latest findings regarding the consequences of lysosomal dysfunction, which occur primarily because of a disruption in the sequential degradation of various substrates generated by cellular turnover. Prior to delving into deleterious cellular events, the nature and physiology of the lysosome will be reviewed. Several mechanisms of disease have been described although seemingly discrete and initially involving different subcellular compartments (e.g., autophagosome and the lysosome), these events are interconnected. Moreover, even when a particular defect is identified (e.g., impairment of mitophagy), the observed changes may be mediated by distinctive processes which calls attention to myriad ways cells can respond to injury. In each of the relevant sections, disease-specific observations are described. Topics covered in the book are grouped into three sections: (1) physiologic events involving or occurring within the confines of the lysosome (2) cellular perturbations implicated in lysosomal storage disease and (3) therapeutic strategies and views relating to genetic screening and counselling. Background material and additional information are provided in boxed sections at the end of each chapter. Diagrams are included to facilitate greater understanding of relevant themes. The subject matters that are discussed can be found scattered over several publications the current monograph attempts to collate several perspectives into a coherent narrative and serve as a convenient resource.