Lysosomal storage diseases

Published on March 31, 2019   49 min
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Hello, my name is Fran Platt. I'm a professor of Biochemistry and Pharmacology at the University of Oxford in the UK. My lab is interested in lysosomal storage diseases. This is going to be an introductory talk on the subject that's going to range from the background of these disorders, progress towards therapy, and also, their very interesting links to more common diseases.
Lysosomal storage diseases involve defects in a very specialized part of the cell called the lysosome. The lysosome is the acidic organelle of the cell, and it's long been appreciated to be the main site of macromolecule breakdown or catabolism, and also those macromolecules, when they are broken down, the metabolites that are generated can be recycled into other parts of the cell to feed into other metabolic pathways. So, we've known for many years that the lysosome has this key recycling and degradative function. But, what's really fascinating is that over the years, we've begun to appreciate that there's much more complexity to what the lysosome does than just this really quite mundane housekeeping role. In fact, it turns out that this is the part of the cell that actually senses nutrients, and also it has emerged to be a calcium signaling center that actually, cross-talks with the ER and other calcium signaling centers of the cell. So, this means that over the last 10 years in particular, there's been a renaissance of interest in the lysosome, and much of the insight into how the lysosome works actually came from studying rare inborn errors of metabolism at which the lysosomal storage diseases are the main group of disorders.