Receptor FIBCD1 newly identified in neuro-developmental disorders

A multidisciplinary study led by Vanja Nagy (LBI-RUD/CeMM/Medical University of Vienna) and Josef Penninger (UBC/IMBA) characterized a novel gene, known as FIBCD1, to be likely causative of a new and rare neurodevelopmental disorder. Using data from two young patients with neurological symptoms, the researchers from both groups found evidence of a novel function for the FIBCD1 gene in the brain, and a potentially pivotal role in diseases such as autism, ADHD, schizophrenia, and neurodegenerative disorders including Alzheimer-s. The study makes an important contribution to the understanding of the extracellular matrix in the brain and its associated neurological diseases. The extracellular matrix (ECM) is the tissue in the brain that surrounds cells in a meshwork-like manner to support and instruct brain function in that respective region. The ECM provides stability to brain cells to enable proper function, including long-term memory storage and makes up around a fifth of the brain volume. Until now, few cellular receptors for ECM signaling have been identified, but no association with a congenital neurological disease was made. For the first time, researchers from two groups - Vanja Nagy's group from the Ludwig Boltzmann Institute of Rare and Undiagnosed Diseases (LBI-RUD), the CeMM Research Center for Molecular Medicine of the OeAW and the Medical University of Vienna (MedUni Vienna), and Josef Penninger's group from the University of British Columbia (UBC) and the Institute of Molecular Biotechnology of the OeAW (IMBA) - have characterized FIBCD1, to be a receptor of the ECM -sugar- components and linked it to a rare genetic neurological disease.