Specific Gaucher’s Disease Type 2 and Type 3 Research

Disclaimer!  I have absolutely NO CLUE what this means, but this is the group that the Children’s Gaucher’s Research Fund is directly funding to work on GD2/3.   I will find out what this means and how it may affect Hannah!

Pathophysiology of sphingolipid storage diseases
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.  

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).

Comments

  1. This is VERY interesting. Do you know what research group is doing this work — which University? Make sure you put this in your future posts. I will check into this ASAP. This has to do with calcium (CA2+) and sphingolipids and how it’s altered and impacting the neurons.

    It’s amazing how these diseases are connected and how many correlations there are.

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