Sacsin

Sacsin is a protein encoded by the SACS gene, primarily found in neurons. Its function is not fully understood but is believed to play a role in maintaining neuronal health and integrity. Sacsin is a large protein and has been classified as a molecular chaperone, suggesting it assists in the proper folding and assembly of other proteins, preventing their aggregation. It is also thought to be involved in the regulation of cytoskeletal dynamics, which are crucial for neuronal structure and function.

Mutations in the SACS gene are associated with a severe neurodegenerative disorder called autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). ARSACS is characterized by progressive ataxia, spasticity, and cognitive impairment, typically beginning in childhood or adolescence. The loss of functional sacsin protein due to these mutations is believed to disrupt cellular processes, leading to the progressive degeneration of neurons, particularly in the cerebellum and corticospinal tracts. Research into sacsin's precise mechanisms of action is ongoing, aiming to shed light on its normal cellular roles and the pathological consequences of its dysfunction in ARSACS. Understanding these mechanisms is key to developing potential therapeutic strategies for the disorder.