Oncological Aspects of Lysosomal Storage Diseases.

Cells

Department of Genetics, Institute of Psychiatry and Neurology, Al. Sobieskiego 9, 02-957 Warsaw, Poland.

Published: October 2024

Lysosomal storage diseases (LSDs) are caused by the deficient activity of a lysosomal hydrolase or the lack of a functional membrane protein, transporter, activator, or other protein. Lysosomal enzymes break down macromolecular compounds, which contribute to metabolic homeostasis. Stored, undegraded materials have multiple effects on cells that lead to the activation of autophagy and apoptosis, including the toxic effects of lyso-lipids, the disruption of intracellular Ca ion homeostasis, the secondary storage of macromolecular compounds, the activation of signal transduction, apoptosis, inflammatory processes, deficiencies of intermediate compounds, and many other pathways. Clinical observations have shown that carriers of potentially pathogenic variants in LSD-associated genes and patients affected with some LSDs are at a higher risk of cancer, although the results of studies on the frequency of oncological diseases in LSD patients are controversial. Cancer is found in individuals affected with Gaucher disease, Fabry disease, Niemann-Pick type A and B diseases, alfa-mannosidosis, and sialidosis. Increased cancer prevalence has also been reported in carriers of a potentially pathogenic variant of an LSD gene, namely , , , , and, to a lesser extent, in other genes. In this review, LSDs in which oncological events can be observed are described.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11475748PMC
http://dx.doi.org/10.3390/cells13191664DOI Listing

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