ARTICLE | Translation in Brief
Treating autism via actin
Treatment of autistic behavior in mice by modulation of the actin pathway
June 4, 2015 7:00 AM UTC
A study out of the University at Buffalo solidifies the actin dysregulation hypothesis of autism and identifies the actin regulator cofilin 1 (CFL1) as a therapeutic target in patients with mutations in the scaffold protein SHANK3.
Mutations in SH3 and multiple ankyrin repeat domains 3 (SHANK3; PROSAP2; SPANK-2) are among the strongest risk factors for autism, and are central to the actin hypothesis because SHANK3 links postsynaptic proteins to the actin cytoskeleton in regions of neurons that form synapses with glutamatergic fibers. But how the protein is involved in the disease has not been clear...