Researchers at the Ospedale San Raffaele (OSR) Scientific Institute in Milan, Italy, supported by the Charcot-Marie-Tooth Association (CMTA) and its Strategy To Accelerate Research (STAR), have made encouraging progress in developing a potential treatment for CMT1B. This groundbreaking work, led by Maurizio D’Antonio, PhD, focuses on activating the Unfolded Protein Response (UPR), targeting the fundamental issue caused by mutations in the MPZ gene.
With CMTA support of $33,000, Dr. D’Antonio’s team has concentrated on harnessing the body’s natural cellular mechanisms to combat the effects of the faulty MPZ protein. This protein, crucial for the health of peripheral nerve myelin, becomes harmful when misfolded (assembled incorrectly) due to the genetic mutations that cause CMT1B. The accumulation of these defective proteins in nerve cells triggers the UPR, a cellular defense mechanism that cleanses harmful proteins.
The project aimed to identify small molecules capable of activating the adaptive pathways of the UPR, thereby enhancing the cell’s ability to manage and eliminate the misfolded MPZ protein. By activating this natural response within peripheral nerve cells, the researchers aimed to restore healthier nerve function and improve the symptoms of CMT1B.
Dr. D’Antonio and his colleagues tested various compounds in CMT1B models to determine whether these could effectively activate the UPR pathways. The initial results are encouraging, demonstrating that these pathways can be activated in CMT1B.
This project exemplifies the kind of forward-thinking research CMTA is proud to support. By exploring and advancing these innovative therapeutic strategies, we are laying the groundwork for treatments that could significantly improve the quality of life for those living with CMT1B, with the potential to impact other types of CMT.
While more research is needed to determine if these findings will lead to meaningful clinical outcomes, Dr. D’Antonio’s work represents a promising step towards new therapeutic approaches for CMT1B. CMTA remains committed to supporting research that lays the groundwork for breakthroughs, advancing our understanding of CMT, and bringing us closer to effective treatments.
Published: August 29, 2024
Register with Patients as Partners in Research Today
Not yet registered with Patients as Partners in Research? Click the button below to register today! Registering ensures you are the first in line for any CMT research opportunity you might be eligible for and are interested in. Registering will ensure you are updated on all the latest news and developments in CMT research. Registration is free, and all who have CMT are invited to join.