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 E-Mail IMAGE: Mouse motor neurons, generated from mouse embryonic stem cells exposed (right) or not (left) to ALS-associated peptides (right). As observed in patients, these peptides are toxic and cause neuronal death.. view more  Credit: CNIO In Amyotrophic Lateral Sclerosis (ALS), the progressive death of neurons that control body movement leads to paralysis of muscles in the limbs and gradually of the whole body, which ultimately makes it impossible to breathe. ALS is currently untreatable, and its cause is unknown. It is known, however, that in 10% of affected individuals there is a strong genetic component, which causes the disease to occur in several members of a single family. In about half of these cases of familial ALS, the origin lies in a gene called C9ORF72. But why do mutations in this gene kill motor neurons?

Oleksandra sirozhDeutsche forschungsgemeinschaftJack szostakVanesa lafargaSpanish national cancer research centreGenomic instability groupSpanish ministry of scienceEuropean research councilNational institute of health carlosBanco santanderAmyotrophic lateral sclerosisSpanish ministryNational instituteHealth carlosSantander universitiesBiomedical environmental chemical engineering