Could poor protein trafficking be a factor in autism?

A protein whose mutations are found in people with autism and other neurodevelopmental conditions helps keep connections between neurons in the brain running smoothly.

People with autism have a mutated protein that disrupts the connections between neurons.

Newly published research — led by Rockefeller University in New York City, NY — reveals that the protein astrotactin 2 (ASTN2) can traffick receptors away from neurons' surfaces and prevent them from accumulating there.

Connections between neurons are essential to brain function.

They work because receptors, which sit on the surfaces of cells, are always ready to partner with incoming neurotransmitters from other cells.

The process is dynamic and needs a continual cycle of receptors "on and off" the cell membrane to ensure rapid response to signals. Trafficking proteins help keep the receptors moving.

The recent study, which now features in the Proceedings of the National Academy of Sciences, has also suggested a mechanism through which autism spectrum disorders (ASDs), such as the neurodevelopmental condition autism, could arise from defects in ASTN2.

The exact causes of neurodevelopmental conditions are largely unknown, though many signs can be traced to early brain development. Scientists believe that the origins are complex and involve genetic, biological, and environmental factors.

According to the Centers for Disease Control and Prevention (CDC), around 1 in 68 children from the United States have been "identified with ASD," with boys over four times more likely be identified with it than girls.

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