Surprising discovery about nature of CASK gene disorders may influence potential treatments
Virginia Tech researchers publishing in the Journal of Medical Genetics made a discovery about a genetic form of microcephaly - a condition where babies' heads and brains are smaller and grow more slowly than those of unaffected children. The finding has potential to inform treatment strategies.
The researchers, led by Konark Mukherjee, assistant professor at the Fralin Biomedical Research Institute at VTC, conducted a post-mortem examination of a two-month-old boy with a mutation in the CASK gene. In addition, the scientists designed and executed genetic experiments in mice to provide evidence that loss of CASK function does not affect normal brain development but rather leads to an early loss and degeneration of existing neurons.