1b. Lysosomes in health and disease


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Parkinson-Lawrence et al, Physiology, 2010, 25: 102-15

  • ~60 hydrolases for processing of macromolecules

  • Autophagy

  • Nutrient sensing

  • Calcium signaling

 

The defect in Gaucher Disease is a deficiency of a lysosomal enzyme. Lysosome is a very important organelle of cells in the body. It is not only an organelle that processes large macromolecules and is involved in the degradation of materials that need to be recycled, the lysosome is very important in autopaghy, nutrient sensing as well as calcium signaling, so it is the central hub of controlling cellular homeostasis. Therefore, if you have a deficiency of lysosomal enzyme not only does that material accumulate but there is a broad disfunction of the lysosome leading to widespread pathophysiology.

 

 

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