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Assessing the role of Fibro-Adipogenic Progenitors in EDMD

Our project focuses on fibro-adipogenic progenitors (FAPs), a population of muscle-resident cells that support the formation of new muscle during skeletal muscle regeneration but also give rise to fibrotic and fat cells that accumulate in degenerating muscles. We aim here to study whether this population of cells plays a pathogenic role in Emery-Dreifuss Muscular Dystrophy, a rare genetic muscle disease caused by mutation in a gene encoding for Lamin A/C a protein that resides in the nuclear envelope. In particular, our goal is to understand how mutations in Lamin A/C affect the capacity of FAPs to differentiate into fibrotic and fat cells by studying whether their genome is re-configured in the absence of a functional Lamin A/C. Our ultimate objective is to find new therapeutic cellular targets to develop strategies to block the loss of muscle tissue and the formation of fat and fibrotic scars in EDMD muscles.
https://doi.org/10.55762/pc.gr.157036
Grantee: Chiara Mozzetta, Ph.D.
Grant type: Research Grant
Award total: $279,300
Institution: CNR-Institute of Molecular Biology and Pathology
Country: Italy