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Genetics

Autism up close

A genetic mutation reveals how molecular signaling pathways that control growth connect to autism

Autism now affects one in every 166 children born. Scott Selleck and his colleagues in the Department of Genetics, Cell Biology and Development have spent several years trying to find out whether a specific genetic mutation might play a role in this disorder that changes the lives of so many kids. Selleck entered this investigation by chance, but his continued involvement is decidedly deliberate.

Three years ago, when University of Minnesota pediatric clinics separately evaluated two families that included children with autism and other developmental problems, Selleck had no idea that he would soon be drawn into a new field of research.  His lab studies the ways in which various proteins stimulate the growth and differentiation of cells, most often focusing on the fruitfly, Drosphila melanogaster, as a vehicle for understanding genetic development. The two families in question, however, entered his scientific purview when the pediatric clinics sent their genetic samples to Selleck’s lab. “We found that they shared a chromosomal anomaly, one so small that if we didn’t have a terrific cytogenetics lab, it would have gone unnoticed,” Selleck says.

It turned out that members of both families had deletions, or missing genetic material, in Chromosome 10. Could this genetic mutation play a role in the autism that affects many of the children? The answer could be crucial in efforts to halt the growing incidence of autism.  Selleck was intrigued by the possibilities.

Autistic children often have large heads or abnormal patterns in brain growth. That suggested to Selleck the value of investigating the molecular signaling pathways within genes that control growth. His colleague Tom Neufeld, associate professor in Selleck’s department, has expertise in those particular pathways. Selleck and Neufeld devised fruitfly studies to find out if those pathways are involved in the growth and development of the brain. The answer was yes.

Selleck also enlisted another colleague, professor Mike O’Connor, to work with laboratory mice to determine if there is a link between a protein important in nervous system development, BMP, and the kinds of neural signaling that may play a role in childhood cognitive abnormalities such as autism. “Within two to five years we should have a better understanding of how BMP growth factors affect autism spectrum disorders,” O’Connor says. “They’ve already been shown to have a role in learning, so it’s possible.”

As a newcomer to autism-related research, Selleck initially relied on funds available through his endowed chair to jumpstart his work with O’Connor and Neufeld. “That shows how critical seed-money funds are for new science,” he says. “In the current climate it’s very hard to get money for new projects outside of your published area of expertise.”

Selleck has grown so involved in autism-related research that he is helping to lead an effort to raise $2 million for medical care for patients and continuing research into the causes of the disorder. Says Selleck: “We want to inspire others to get into this research.”  

—Jack El-Hai