Method for Treatment of Autism and Related Behavioral Disturbances in Human Chromosome 16p11.2 Deletion Disorder

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Professor Mark Bear
Department of Brain and Cognitive Sciences, MIT
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Di Tian
Department of Brain and Cognitive Sciences, MIT
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Michelle Hunt
MIT Technology Licensing Officer
Patent Protection

Methods for treatment of 16p11.2 microdeletion syndrome

US Patent Pending 2015-0057315

Methods for treatment of 16p11.2 microdeletion syndrome

PCT Patent Application WO 2013-038179
Contribution of mGlu5 to pathophysiology in a mouse model of human chromosome 16p11.2 microdeletion
Nature Neuroscience, (2015) Vol 18:2, pp. 182-184


Use of mGluR inhbibitors to treat 16p11.2 microdeletion-induced autism and other related psychiatric disorders, including neuropsychiatric disorders, cognitive impairments, attention, obesity, intellectual disability and seizure disorders. 

Problem Addressed

16p11.2 microdeletion syndrome is caused by a deletion of approximately 600 kilobase pairs in chromosome 16 at position p11.2.  This region contains 27 genes, mostly expressed in the brain, of largely unknown function.  The 16p11.2 microdeletion, which causes developmental delays, intellectual disabilities, and delays in speech and language skills, is the most common gene copy number variation in autism. However, defective cellular processes within the brain that disrupt behavior and cognition have remained unknown; hence, there are no mechanism-based therapies available for humans with 16p11.2 microdeletion syndrome. 


This invention presents methods of treating a 16p11.2 microdeletion syndrome in a subject with mGluR inhibitor.  This invention pertains to a key discovery linking behavioral abnormalities of 16p11.2 microdeletion syndrome to underlying biochemical mechanisms.  The inventors discovered that synaptic protein synthesis downstream of metabotropic glutamate receptor 5 (mGluR5) is exaggerated by the 16p11.2 microdeletion in the hippocampus, giving rise to cognitive impairment.  Chronic treatment with a negative mGluR5 inhibitor reverses the cognitive deficit caused by the 16p11.2 microdeletion. 


Novel mechanism-based drug therapy for the treatment of 16p11.2 microdeletion syndrome – i.e. Autism spectrum disorders (ASDs) and intellectual disability (ID).