SAME-NeuroID Retreat 2024 Meet-Up

Neuromuscular junctions (NMJ) are highly specialized synapses connecting motoneuronal axons and skeletal muscles. Signal transmission at the NMJs is crucial for the functioning of the human organism. However, some of the neurodegenerative disorders affect those synapses, leading to severe consequences. The etiology of a number of those diseases is still unknown. Our laboratory studies new important regulators of NMJ with a potential to become a therapeutic target in the future. One of the candidates is cyclase-associated protein 2 (Cap2), which is known as a regulator of actin remodeling. Lack of Cap2 was already associated with severe cardiac problems in mice models and human patients. In the context of skeletal muscles, it was shown that the deletion of CAP2 leads to nemaline myopathy and hypotonia. However, it was never been studied in the context of NMJ. In my project, I'm using tissue-specific Cap2 knockouts to characterize in detail the role of Cap2 protein in neuromuscular junction development and maintenance.