MSImer

Myotonic dystrophies (DM1 and DM2) are rare genetic diseases that affect muscles and many other organs, leading to progressive muscle weakness, stiffness, and reduced quality of life. Currently, there are no curative treatments. Both diseases are caused by abnormal RNA molecules that disrupt normal cellular functions, highlighting the need for new therapeutic approaches.

Recent research has identified a protein called Musashi-2 (MSI2) as an important regulator of muscle degeneration in DM1. This project aims to develop a new treatment strategy based on antisense oligonucleotides—small synthetic molecules designed to selectively reduce harmful proteins—targeting MSI2. By lowering MSI2 levels, we aim to improve muscle health and slow disease progression.

The project has two main goals. First, we will test optimized antisense drugs against MSI2 in laboratory and animal models of DM1, focusing on improving their delivery to skeletal muscle. Second, we will create new cellular models for DM2, a disease that currently lacks adequate research tools, to determine whether MSI2 is also a valid therapeutic target in this condition.

This research will provide essential preclinical evidence to support the development of new treatments for DM1 and DM2. In addition, the findings may be relevant for other muscle-wasting diseases, increasing the potential impact for patients and families affected by neuromuscular disorders.