Lysosomal storage disorders: pathology within the lysosome and beyond

Abstract

This Preface introduces the articles of the special issue on “Lysosomal Storage Disorders” in which several recognized experts provide an overview of this research field. Lysosomes were first described in the 1950s and recognized for their role in substrate degradation and recycling. Because lysosomes impact numerous fundamental homeostatic processes, research on lysosomal storage disorders (LSDs) is crucial to advance our understanding of this intriguing organelle. This Special Issue highlights some of the LSDs that impact the central nervous system (CNS) as well as comprehensive overviews of lysosomal biology, CNS metabolism, and sphingolipid biosynthesis and turnover, all of which are critical toward our understanding of normal lysosomal function and how this is perturbed in the context of LSDs. https://onlinelibrary.wiley.com/page/journal/14714159/homepage/virtual_issues.htm. Cover Image for this issue: doi: .

Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development

“…Lysosomal storage disorders (LSDs) comprise a group of at least 55 disorders, which are caused by genetic mutations in lysosomal enzymes leading to loss of protein function (Kielian, ). This typically leads to storage of undigested material in lysosomes, and cellular dysfunction or cell death.…”

Satellite Glial Cells of the Dorsal Root Ganglion: A New “Guest/Physiopathological Target” in ALS

“…Specifically, we first highlighted SGCs as a new potential target for the disease ( Supplementary Figure 2 ). The preferential lysosomal pathology observed in these cells meets the criteria for a lysosomal storage disorder induced by oxidative stress (Kielian, 2019 ; Marques and Saftig, 2019 ). Moreover, SGCs appear to have an essential function in maintaining sensory neurons homeostasis, thus reinforcing the crucial role of astroglial cells in ALS (Baker et al, 2015 ).…”

Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency

“…For GBA mutation carriers, “severe” mutations have a higher risk of Parkinson’s disease (PD) than “mild mutations,” as well as early age onset of symptoms, initial bradykinesia and family history of dementia [14,62]. GD: Gaucher disease.…”

“…Inborn errors of metabolism (IEM) are characterized by mutations in genes coding enzymes involved in different metabolic pathways. Lysosomal diseases enclose an extensive number of genetic disorders characterized by malfunction of the lysosomal enzymes in the LAS [13,14].…”