Neuroscientists and genetics illuminate power of autism-linked gene

Last Updated: May 29, 2016

Genetics and MIT neuroscientists (MIT) have shed light on the role of the gene causes the development of autism. Neuroscientists have found that gene Shank3 mutation plays an key role in the formation and maturation of synapses – connections by which neurons transmit information to each other.

The experiments of scientists at MIT have shown that among the many genes associated with autism, only Shank3’s mutation does affect the development of autism. These mutations were observed in 0.5 percent of autists, scientists reported in their joint publication Journal of Neuroscience.

Neuroscientists know that Shank3 helps cells respond to the receiving data from other neurons. Troy Littleton, a professor in the departments of Biology and of Brain and Cognitive Sciences at MIT said: “It’s clearly regulating something in the neuron that’s receiving a synaptic signal, but some people find one role and some people find another. There’s a lot of debate over what it really does at synapses.”

Scientists conducted an experiment on the effect of Shank3 gene on fruit flies. A team of researchers from the laboratory of Prof Littleton just knocked out that gene, and this action eliminated all Shank protein from the lab flies. “This is the first animal where we have completely removed all Shank family proteins,” says Kathryn Harris, a Picower Institute research scientist and lead author of the paper in Journal of Neuroscience.