Neuroskeletal Building Block Responsible for Deficits in Development, Intellect and other Behaviors

A new study led by scientists at the University of North Carolina at Chapel Hill links a protein that forms a building block of the skeletal framework of neurons to a class of neurodevelopmental disorders called spectrinopathies. Based on protein modeling, human- and mouse cell-based assays, patient-derived cell systems, and in vivo mouse studies, the researchers show mutations in the SPTBN1 allele may lead to abnormalities in development, speech, movement, intellect, muscle tone, facial morphology and behaviors.