Lacking Sacsin

ARSACS – Autosomal recessive spastic ataxia of Charlevoix-Saguenay – is a rare inherited neurodegenerative disorder that first manifests as difficulties in walking during early life, and subsequently expands to a range of symptoms and ultimately reduced lifespans. It's caused by a mutation in a gene that produces a very large protein, sacsin, which has proved too unwieldy to easily study. In a new approach, researchers examined the effect of removing sacsin. They confirmed that without sacsin, filament-forming structures (yellow in the mouse cerebellum pictured) accumulate – a feature of many neurodegenerative disorders. They also discovered features such as disruptions to tiny cellular transport tracks, called microtubules. With this network damaged, brain cells couldn’t control the internal movement of essential material, and failed to properly communicate with each other. Revealing such mechanisms in rare conditions like ARSACS could lead to new treatments, and to better understanding of more common disorders too.

Written by Anthony Lewis

Anthony Lewis

Writer

Ant was the web editor in the early days of BPoD, and has since worked with the UK’s top science organisations as a writer and multimedia producer. He now splits his time between freelance work and managing multimedia at The Lancet.

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• Image by Samantha Boeshore, UNC Neuroscience Center
• Research by Lisa E.L. Romano, Wen Yih Aw and Kathryn M. Hixson, and colleagues, Faculty of Medicine and Dentistry, William Harvey Research Institute, Queen Mary University of London, London & University of North Carolina at Chapel Hill
• Image copyright held by the original authors
• Research published in Cell Reports, November 2022