Rare Syndrome Shows Motor Neuron Glitches

Researchers have discovered that motor neurons derived from individuals with Phelan-McDermid syndrome, a rare autism-related disorder, form abnormal connections with muscle cells. The unpublished research was presented 26 July at a meeting of the Phelan-McDermid Syndrome Foundation in Orlando.The syndrome is caused by deletions or mutations in a region of chromosome 22 that includes SHANK3, a well-known autism candidate gene. Many babies with Phelan-McDermid have severe hypotonia, or low muscle tone, which often keeps them from learning to walk. Some adults with Phelan-McDermid syndrome also have motor problems.Tobias Böckers and colleagues at the University of Ulm in Germany collected hair samples from individuals with the syndrome. Using various chemical concoctions, the researchers reprogrammed keratinocytes — cells found at the root of the hair — into induced pluripotent stem (iPS) cells, and then coaxed these to develop into motor neurons.Read more at...SFARI, July 2012.