Autophagy inhibition: a new therapeutic target in spinal muscular atrophy

摘要

Spinal muscular atrophy(SMA)is a hereditary pediatric motor neuron(MN)disease:survival motor neuron 1(SMN1)gene mutation determines MN degeneration and,consequently,muscle atrophy,breathing and swallowing difficulties,and,in the most severe cases,premature death.A second unaffected gene(SMN2)is present,but it can only produce a limited amount of functional protein,modulating the disease severity and progression.SMN,ubiquitously expressed,is mainly