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Cell Calcium. 2011 Aug;50(2):200-5. doi: 10.1016/j.ceca.2011.03.010. Epub 2011 Jul 2.

Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases.

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1
School of Biosciences, Biomedical Sciences Building, Cardiff University, Museum Avenue, Cardiff CF10 3AX, United Kingdom. Lloyd-EvansE@cardiff.ac.uk

Abstract

Disrupted cellular Ca(2+) 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 Ca(2+) uptake and defective NAADP-mediated lysosomal Ca(2+) 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 Ca(2+) uptake whilst the TRPML1 protein defective in mucolipidosis type IV is believed to function as a Ca(2+) channel. In this review we provide a summary of the current knowledge on the role of lysosomal Ca(2+) signaling in the pathogenesis of this group of diseases.

PMID:
21724254
DOI:
10.1016/j.ceca.2011.03.010
[Indexed for MEDLINE]
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