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Newly Discovered Autism Gene Opens New Avenue of Research

April 05, 2012

Scientists have discovered a gene whose expression is twelve times higher than normal in the brains of persons with autism. The gene, dubbed MSNP1AS, may increase autism risk in a manner that has been little studied in the past. As such it may open up new avenues of research on the underlying causes – and possible treatments – of autism spectrum disorder (ASD).

The discovery was made possible by family participation in Autism Speaks Autism Tissue Program (ATP). The ATP is a repository of donated postmortem tissue that Autism Speaks makes available for promising autism research around the world. The new findings were published this week in the journal Science Translational Medicine. The research was done at the University of Southern California’s Keck School of Medicine.

“This is tremendously exciting work because it identifies a new mechanism that may play a significant role in autism risk – and do so at a level that hasn’t been studied in the past,” says Andy Shih, Ph.D., Autism Speaks vice president of scientific affairs.

Traditionally, medical genetic research focuses on genes that spell out proteins. Proteins direct development and biological activity throughout the brain and body. They also serve as vital building blocks in cells and tissues. Mutations in protein-coding genes can result in a protein being either faulty or missing altogether.

By contrast, the newly discovered MSNP1AS gene does not “code,” or spell out instructions, for making a protein. It is a type of “non-coding” genetic material that has been largely ignored in the past.

The USC scientists found strong evidence that MSNP1AS alters the expression of one or more other genes that do code for proteins and directly affect autism risk. In particular, the researchers discovered that MSNP1AS suppresses the production of moesin, a protein important to both early brain development and immune function.

The USC researchers made their discoveries by comparing markers of genetic activity in tissue samples from ten adult brains affected by autism (from Autism Speaks ATP) with the gene activity in donated brain tissue not affected by autism.

MSNP1AS or moesin might someday become targets for medicines that can relieve autism’s symptoms, says the study’s senior author Daniel B. Campbell, Ph.D., an assistant professor of psychiatry and behavioral sciences at the USC medical school. First, however, much more research is needed to unlock the mystery of the gene’s function and moesin’s effect on early brain development.

“We would like to thank the ATP-participating families,” Campbell adds. “The work presented in the paper would not have been possible without the Autism Tissue Program.”

For more information about registering as an ATP family, please visit the ATP website. Also see these news stories on other recent discoveries made possible by Autism Speaks Autism Tissue Program: Discovery of Abnormal Gene Pathways Suggests Targets for Future Medicines and New Clues to Autism Brain ‘Wiring’ Point to Events Before Birth.