PubMed 21724254

Referenced in Channelpedia wiki pages of: none

Automatically associated channels: TRP , TRPM , TRPML , TRPML1

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

Authors: Emyr Lloyd-Evans, Frances M Platt

Journal, date & volume: Cell Calcium, 2011 Aug , 50, 200-5

PubMed link:

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.