Quebec researchers find potential pathway to halt ALS progression
A Montreal team identified a DNA repair mechanism that may be reversible, opening doors to earlier diagnosis and possible treatments for the neurodegenerative disease.
Researchers at Institut national de la recherche scientifique have identified a mechanism that could halt the paralysis caused by ALS, offering potential for earlier diagnosis and new treatment approaches.
The team, led by Professor Kessen Patten, broke from traditional ALS research by focusing on the cerebellum rather than motor regions of the brain. Using zebrafish models—which share many genetic mechanisms with humans—they discovered that the disease begins gradually in the cerebellum years before visible symptoms appear.
The research pinpointed a defect in an enzyme essential for DNA repair. When this enzyme's activity decreases, DNA damage accumulates and cells degenerate. Crucially, experiments showed the mechanism may be reversible: when researchers restored the gene's activity, they saw reduced damage, better neuron survival, and halted disease progression at the cellular level.
"If there are ALS carriers in the family, we believe that imaging of the cerebellum could be performed early on, before the onset of motor symptoms," Patten said. Between 3,000 and 4,000 people live with ALS in Canada. The findings were published in the medical journal Brain.