Lysosomal Ca2+ homeostasis: Role in pathogenesis of lysosomal storage diseases

Lloyd-Evans, Emyr ORCID: https://orcid.org/0000-0002-3626-1611 and Platt, Frances M. 2011. Lysosomal Ca2+ homeostasis: Role in pathogenesis of lysosomal storage diseases. Cell Calcium 50 (2) , pp. 200-205. 10.1016/j.ceca.2011.03.010

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Abstract

Disrupted cellular Ca2+ signaling is believed to play a role in a number of human diseases including lysosomal storage diseases (LSD). LSDs are a group of ∼50 diseases caused predominantly by mutations in lysosomal proteins that result in accumulation of macromolecules within the lysosome. We recently reported that Niemann-Pick type C (NPC) is the first human disease to be associated with defective lysosomal Ca2+ uptake and defective NAADP-mediated lysosomal Ca2+ release. These defects in NPC cells leads to the disruption in endocytosis and subsequent lipid storage that is a feature of this disease. In contrast, Chediak–Higashi Syndrome cells have been reported to have enhanced lysosomal Ca2+ uptake whilst the TRPML1 protein defective in mucolipidosis type IV is believed to function as a Ca2+ channel. In this review we provide a summary of the current knowledge on the role of lysosomal Ca2+ signaling in the pathogenesis of this group of diseases.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Biosciences
Subjects:	Q Science > Q Science (General) Q Science > QH Natural history > QH301 Biology
Uncontrolled Keywords:	Lysosomal calcium; Lysosomal storage disease; Niemann-Pick; NPC1; Mucolipidosis type IV; MLIV; NAADP
Additional Information:	Article history: Available online 2 July 2011
Publisher:	Elsevier
ISSN:	0143-4160
Last Modified:	19 Oct 2022 09:06
URI:	https://orca.cardiff.ac.uk/id/eprint/20030

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