San Marcos Record, San Marcos, TX

Local News

July 10, 2011

Autism: Genes provide road maps

— Many roads can lead to the same place, often crossing over one another and sometimes passing the same landmarks.

The interactome or protein interaction network for autism spectrum disorders developed by researchers at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital in collaboration with scientists at the Center for Cancer Systems Biology (CCSB) at Dana-Farber Cancer Institute demonstrates how protein pathways converge, diverge and interact to arrive at the same devastating condition.

In a report in the current issue of the journal Science Translational Medicine

Dr. Huda Zoghbi, director of the Neurological Research Institute and professor of neurology, neuroscience, molecular and human genetics and pediatrics at BCM, and her colleagues describe the network that identifies hundreds of new interactions among proteins encoded by genes associated with autism spectrum disorder.

It also relays new information about idiopathic autism, which has no known cause.

It does this by building on what is known about syndromic autism that often occurs as a symptom of a broader genetic disorder such as fragile X, tuberous sclerosis and Phelan-McDermid syndrome.

The three core features of autism present in both idiopathic and syndromic cases include impaired social skills, delayed language and repetitive behaviors.

“The interactome is a more functional approach,” Zoghbi said. “It can help us understand how mutations in different genes can cause similar clinical symptoms.”

When the study started, she and her colleagues began with 26 genes known to be associated with syndromic autism.

Studying each of those singly and devising a therapy would take a lifetime, said Zoghbi.

Together, they account for no more than 30 percent of autism cases. (There are now more than 60 genes associated with autism spectrum disorder, a sign of advances in the field).

“We had these 26 genes that seemed to have little to do with each other but still resulted in autism-like symptoms,” Zoghbi said. “We thought that perhaps they cause autism by interacting with some shared partners that function in pathways that lead to similar phenotypes (similar characteristics).”

They took each protein associated with autism and determined the proteins with which they interacted.

The complicated network that resulted encompasses 539 proteins that interact with the 26 proteins associated with syndromic autism spectrum disorders.

These protein interactions include a variety of genes including transcription factors, RNA-binding proteins, cell adhesion molecules and enzymes involved in modifying and degrading proteins.

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