1. Researchers at KU Leuven and VIB Center for Brain and Disease Research have discovered defects in primary cilia in ALS patients, suggesting a new treatment approach. 2. ALS, or amyotrophic lateral sclerosis, is a severe neurodegenerative disease with a life expectancy of two to five years post-diagnosis. 3. The study published in "Brain" highlights C21orf2 mutations as a potential cause of primary cilia dysfunction in ALS. 4. Mutations in C21orf2 impair the formation and structure of primary cilia, leading to fewer and abnormally short cilia in motor neurons from affected patients. 5. Disruption of the sonic hedgehog (Shh) pathway due to cilia damage affects motor neuron connections to muscles, leading to muscle weakness and paralysis. 6. Restoring C21orf2 levels in mutated cells repaired cilia defects and restored Shh signaling, indicating a therapeutic target for ALS. 7. Similar cilia defects were observed in motor neurons from ALS patients with C9orf72 mutations, suggesting a broader cilia dysfunction issue in ALS. 8. The findings indicate that targeting primary cilia dysfunction may be a viable therapeutic strategy for ALS.
