Unimore discovers a new mechanism underlying FSHD muscular dystrophy
The prestigious international journal Nucleic Acids Research has published an innovative and groundbreaking study by the MIOGEN laboratory, led by Professor Rossella Tupler from the Department of Biomedical, Metabolic and Neurosciences at Unimore. The study proposes a paradigm shift in the research model for facioscapulohumeral muscular dystrophy (FSHD), one of the most common genetic disorders affecting the muscles and causing their progressive weakening.
The research, led by Dr Valentina Salsi and Dr Francesca Losi, has identified a new molecular mechanism involving a specific RNA molecule called FRG2A-t. This RNA belongs to the class of long non-coding RNAs (lncRNAs), which do not code for proteins but can nonetheless regulate essential cellular functions.
In FSHD, FRG2A-t accumulates in the cells that give rise to skeletal muscle. Specifically, FRG2A concentrates in the nucleolus, a substructure of the cell nucleus involved in the production of ribosomes – the "factories" that synthesise proteins. Here, FRG2A-t forms aggregates known as “Froggy2 bodies”, which interfere with ribosome production and thereby impair the muscle cell's ability to synthesise the proteins it needs to function correctly. This alteration contributes to the progressive loss of muscle mass characteristic of FSHD.
The study employed cutting-edge technologies, combining genetic analyses, ultra-high-resolution imaging, and three-dimensional modelling of the nucleus, thanks to the support of the CIGS – Unimore’s Interdepartmental Centre for Advanced Instrumentation.
“Our findings show that DNA elements long considered useless or ‘junk’ may play fundamental roles in cell function and disease development,” explains Professor Rossella Tupler, head of the MIOGEN laboratory and coordinator of the research.
The work was made possible through funding from the Cariplo-Telethon Foundation and the HEAL Italia project (PNRR), and it relied on a robust network of international scientific collaborations. The study was also based on cells and tissues from the Italian FSHD Registry – a unique genetic-clinical resource in Europe, coordinated by Unimore itself.
Today, the MIOGEN laboratory is an international point of reference for the study of neuromuscular diseases, with over 4,000 biological samples collected. This discovery marks an important step towards a deeper understanding of FSHD and could pave the way for more accurate diagnoses and targeted therapies.
Categorie: International - english, Notizie_eng
Articolo pubblicato da: Ufficio Stampa Unimore - ufficiostampa@unimore.it