Acid beta-glucosidase/glucocerebrosidase (GCase)

Published on October 1, 2007 Updated on July 27, 2016   47 min

Other Talks in the Therapeutic Area: Cardiovascular & Metabolic

0:00
Welcome to a presentation on Acid β-Glucosidase or Glucocerebrosidase. Throughout this talk, we'll refer to this as GCase. My name is Gregory A. Grabowski. I'm a Physician, Professor Emeritus in the Department of Pediatrics and in the Division of Human Genetics at Cincinnati Children's Hospital Medical Center, and I am Chief Scientific Officer at Kiniksa Pharmaceuticals, Ltd in Wellesley, Massachusetts.
0:29
We will first deal with the importance of GCase and its role in disease. GCase degrades glucosylceramide, which is an important glycosphingolipid in development and within all cell membranes, the precursor to ceramide and is a critical signaling lipid in the regulation of apoptosis and inflammation. Defective GCase causes a disease called Gaucher disease. This is a common lysosomal storage diseases and GCase is a lysosomal hydrolase. It has been a prototype for molecular therapies.
1:08
GCase has become a target for molecular therapies and, in particular, the development of enzyme therapy by supplying wild type functional GCase by intravenous administration has improved the lives of patients with Gaucher disease over the past 15 years. Gene therapy has also been used in exploratory ways for the expression of the GCase gene in selected cell types, in particular, in stem cells of the hematopoietic origin since the disease relates to the macrophage system. In addition, expression at high levels in other organs such as the liver could be used as an organoid approach to the therapy of Gaucher disease. Finally, it has become a target for the development of a new method of treatment with significant potential termed chaperone therapy in which the endogenous defective GCase activity is enhanced by use of small molecules to re-conform the defective enzyme.
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Acid beta-glucosidase/glucocerebrosidase (GCase)

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