Role of Shank3 Mutation Finally Surfaced (Source: Science Daily)

Mutations are often studied as the base of autism, with the Shank3 mutation being pointed out specifically as a leading cause of ASD symptoms. The Shank3 mutation is found in 0.5 percent of patients on the autism spectrum. A recent study, coming from MIT, pinpointed the main role that this common mutation plays in the disorder.

Neuroscientists from Massachusetts Institute of Technology used fruit flies as the test subjects in their recent ASD study. The flies were the best participants for the study because they only have one type of Shank out of the 3 total. This means that by the scientists eliminating the mutation from the flies, they eliminate the gene completely.
The main author of the study is Troy Littleton, a professor in the departments of Biology and of Brain and Cognitive Sciences at MIT, a member of MIT’s Picower Institute for Learning and Memory.
“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,” Littleton said. “There’s a lot of debate over what it really does at synapses.”
Synapses are the connections between two separate nerve cells.
Littleton and his team found that postsynaptic cells had fewer areas for neurotransmitter releases, called boutons. These boutons often malfunctioned in the fact that there weren’t postsynaptic proteins like there were supposed to be. These proteins are meant to react to synaptic signals.
“During critical windows of social and language learning, we reshape our connections to drive connectivity patterns that respond to rewards and language and social interactions,” Littleton said. “If Shank is doing similar things in the mammalian brain, one could imagine potentially having those circuits form relatively normally early on, but if they fail to properly mature and form the proper number of connections, that could lead to a variety of behavioral defects.”
Another result of the study is that the disappearance of Shank can compromise specific proteins, translating into an issue with a signaling pathway, called Wingless.
For more information, check out the source for this blog post, Science Daily.
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