Researchers unravel genes behind Mabry Syndrome
Most rare diseases are hereditary but their exact cause often remains unclear. Researchers at the Max Planck used Next generation sequencing to unravel the causative gene behind the rare hereditary mental retardation disorder Mabry Syndrome. According to reports in Nature Genetics, a mutation in the PIGV gene results in the inability of proteins to anchor to the surface of cell membranes. "Using new bioinformatic analyses, we were able to limit the number of mutation candidates to two - one of which isultimately responsible for Mabry Syndrome," stated author Michal Ruth Schweiger. The available results will enable for example, the identification of the genetic risk in affected couples who would like to have children. Based on the results, the scientists will be able to carry out further research on the disease and develop new options for its treatment.