DISSECTING THE EPIGENETIC FEATURES AT THE BASIS OF FACIOSCAPOLOHUMERAL DISTROPHY (FSHD)

FSHD is a neuromuscular disorder that arises when patients are missing tandemly repeated DNA sequence (D4Z4), located near the end of chromosome 4 (4q35.2). The researchers intend to characterize the 4q35.2 genomic elements and their epigenetic molecular features probably involved in the alteration of muscle cell functionality in this myopathy. The innovation of the proposal stems from the choice of new generation human genomic libraries and cellular models (mesoangioblasts and myoblasts), which have never been proposed to approach the FSHD pathogenesis.This approach is aimed to provide new tools for a finer and easier molecular diagnosis and new therapeutical strategies.