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Mutation in Autism patients' protein structure studied

an autism child 9

Do you know, in America alone, today 1 in 150 children suffer form an autism spectrum disorder?! Astonishingly, 1.5 million Americans and their families are, presently, affected leading to a national health crisis, according to the Autism Society of America.

Treatment of this disease alone costs the U.S. at least $35 billion annually! These developmental disabilities lead to impairments in social interaction and communication among these many American children, a matter of concern for the medical fraternity and the country’s future.

To get to the roots of the disease, in a bid to find a solution,
scientists at the University of California have discovered how particular genetic mutations affect the structure of autism-implicated protein complex.

These proteins are the culprits behind the developmental abnormalities found in children with autism.

First author Davide Comoletti, Ph.D., UCSD research associate at the Skaggs School of Pharmacy said,

By understanding the three-dimensional structure of the normal protein, researchers can now make predictions about how mutations in the gene affect the structure of the gene product.


The scientists have studied the neuroligin proteins-family encoded by genes that get mutated in certain patients with autism.

These structural studies on neuroligins and neurexins would surely push a major step forward in defining the synaptic organization at the molecular level – perhaps a step towards treating autism at the roots.

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