Pathophysiology of sphingolipid storage diseases

Pathophysiology of sphingolipid storage diseases
Cultured hippocampal neurons that have accumulated GlcCer (right), using a chemical inhibitor of glucocerebrosidase, release more calcium from internal stores than their control counterparts (left).
We are attempting to delineate the molecular mechanisms by which sphingolipid accumulation in lysosomal storage diseases causes cell dysfunction, specifically in neuronal cells. We have shown that neuronal Ca2+-homeostasis is altered in models of Gaucher, Tay-Sachs (Sandhoff) and Niemann-Pick diseases, and we are currently attempting to determine the precise biochemical mechanisms by which sphingolipids alter Ca2+-homeostasis.