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Davide Comoletti
Assistant
Professor
UMDNJ
Dept. of Neuroscience & Cell Biology
The Child Health Institute of NJ
89 French Street, Room 4274
New Brunswick. NJ 08903
(732) 235-9466
FAX - 9333
comoleda@umdnj.edu |
Structural and molecular basis of synapse formation and
connectivity in relation to autism spectrum disorders
Autism is a general term used to describe a group of complex
developmental brain disorders known as Pervasive Developmental Disorders
(PDD). Today, it is estimated that one in every 110 children is diagnosed
with autism, making it more common than childhood cancer, juvenile
diabetes, and pediatric AIDS combined. The vast majority of cases of
autism are idiopathic, however, a wealth of genetic studies point to the
role of synaptic adhesion proteins such as the neuroligins, neurexins, and
others, in the pathogenesis of some form of the disease. Most of these
proteins are important in controlling synaptic function, neuronal
connectivity, and recognition patterns in the developing brain.
Interestingly, some of these genes have also been implicated in the
pathogenesis of epilepsy, schizophrenia, ADHD, and Tourette syndrome,
suggesting that some of these disorders may share common molecular
pathways.
In our lab we study the structural and molecular basis of synapse
formation and connectivity in relation to autism spectrum disorders. Our
focus is on the three-dimensional structure and cellular functions of
several trans-synaptic adhesion molecules such as the neuroligins,
neurexins, LRRTMs (see selected publication below). Besides these
well-known proteins, other novel associating proteins also have been
recently discovered by us and by others and are currently under
investigation in the lab. We use structural biology and cellular
neuroscience to gain insights into how mutations of these proteins
associate with autism and other common neurodevelopmental disorders.
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