2022 Million Dollar Bike Ride results in $69,775 for BPAN research
April 2023
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| Professor Betrand Mollereau of ENS-Lyon in France, was the 2022 MDBR research grant recipient. |
Thanks to fundraising efforts by BPAN families and a matching grant from the University of Pennsylvania’s Orphan Disease Center, new BPAN research is now underway to better understand what causes the disease.
Professor Bertrand Mollereau of Ecole Normale Supérieure de Lyon, (ENS-Lyon) in France, received $69,775 as the 2022 BPAN research grant recipient from this annual in-person and virtual bike-riding event.
Mollereau and his co-investigators on the project at ENS-Lyon, Dr. Ludivine Walker and Marion Celle, will spend a year studying autophagy. Autophagy is the cell’s housekeeping and recycling process in which a cell breaks down old, damaged or abnormal parts and reuses some of them to keep the body functioning smoothly. Sometimes, however, the process doesn’t work the way it should.
Defective autophagy has been observed in several BPAN cellular and animal models. Some scientists think insufficient autophagy could be responsible for neurodegeneration in BPAN patients. Hence, a research priority is identifying novel therapeutics that restore the cleaning-and-recycling system.
Collaborating with Mollereau’s lab on the project is Dr. Apostolos Papandreou of University College London. He and colleagues at the Kurian/Ketteler laboratories at UCL have identified small molecule compounds that correct autophagy in certain types of stem cells taken from BPAN patients known as cultured induced pluripotent stem cells (IPSC).
An important step in selecting the best compounds is to show how well they work in an animal model of the disease. For this purpose, Mollereau and co-investigators have developed an animal fly model of BPAN that exhibits hallmarks of the disease, such as an autophagy defect, iron accumulation, neurodegeneration and a movement disorder.
For his part of the project, Papandreou will continue characterizing compounds in IPSC. These cells have unique properties of self-renewal and can be made into many other types of cells. Mollereau and co-investigators will select the best molecule compounds that restore autophagy to these stem cells to see if they can rescue the cellular and movement defects in BPAN flies.
The resulting compounds will then be tested in a larger animal, with a goal of creating a clinical trial to see if one or more of these compounds might benefit BPAN individuals.
Mollereau’s project is titled “Establishing autophagy inducers as novel therapies in cellular and animal models of Beta-propeller Protein-Associated Neurodegeneration (BPAN).”
