Neurobiology of mouse models for human chr 16p11.2 microdeletion and fragile x

Massachusetts Institute Of Technology, Cambridge MA

Investigators

Linked publications & trials

Abstract

DESCRIPTION (provided by applicant): Autism is a pervasive developmental disorder characterized by impairment in social interaction and communication, and restricted repetitive and stereotyped behavior or interest. Fragile X syndrome and autism have overlapping clinical presentation, thus may share common biochemical and neurophysiological features. Identifying these commonalities is vital in understanding the pathogenesis and providing effective therapies for both neurodevelopmental disorders. Human chromosome 16p11.2 microdeletion is the most common chromosome copy number variation (CNV) in autism. We plan to generate mice carrying deletion of a syntenic region to model human chr16p11.2 microdeletion phenotypes. We hypothesize that deletion at human chr16p11.2 causes synaptic pathophysiology that overlaps with Fragile X syndrome. This hypothesis will be tested in a battery of experiments that have been successfully conducted in Fragile X mice in our laboratory. PUBLIC HEALTH RELEVANCE: Autism and Fragile X syndrome are major public health concerns which share some common features in both clinical presentations and pathogenesis. Identifying and characterizing these features is vital in developing effective therapies for both diseases. This can be accomplished by comparing animal models for autism and Fragile X syndrome.