“Elucidating protective mechanisms in spared muscles of FSHD patients

Investigator: Lorena Di Pietro PhD

Category: Research - Basic

In FSHD patients, muscles do not all behave the same way: they can evolve differently and in a largely unpredictable manner, with some muscles showing clear signs of damage while others remain surprisingly healthy, even within the same individual. Understanding why some muscles are naturally protected could reveal new ways to prevent or slow the progression of the disease. This project aims to uncover the biological mechanisms that help certain muscles resist degeneration. By analyzing patient-derived muscle cells, including supportive cells, immune cells, and integrating these data with detailed longitudinal MRI profiles, we aim to identify the molecular and cellular signals that distinguish protected muscles from affected ones and to pinpoint the key pathways and cell types contributing to sustain muscle protection.

Understanding these protective mechanisms could guide the development of strategies not only to slow disease progression but also to prevent symptom onset. The findings may also inform future FSHD clinical trials by showing whether treatments can promote the resolution of STIR-positive lesions to a STIR negative status or reduce the appearance of new STIR hyperintensities, offering new hope for preserving muscle function and improving quality of life for people with FSHD.