Study of protein 'trafficker' provides insight into autism and other brain disorders

ScienceDaily | 9/23/2018 | Staff
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In a new study, Rockefeller scientist Mary E. Hatten and research associate Hourinaz Behesti demonstrate that the protein ASTN2 helps move proteins away from the membrane in a timely fashion. The researchers also propose a mechanism by which ASTN2 defects lead to neurodevelopmental disorders such as autism and intellectual disabilities.

Neurons send messages to one another in the form of chemicals, or neurotransmitters, which activate receptor proteins on the surface of neighboring cells. Chemical communication is highly dynamic, which means that receptors must be dynamic too: they perpetually rotate on and off the membrane, ensuring rapid response to incoming signals. This process requires assistance from additional proteins, so-called traffickers that nudge receptors to move along.

Hatten - Frederick - P - Rose - Professor

Hatten, the Frederick P. Rose Professor, has demonstrated that the protein ASTN2 acts as such a trafficker during cell migration in early development. When Behesti joined Hatten's lab, she proposed that the protein might also play a role later in life, an idea supported by the fact that ASTN2 had been shown to be present in the adult brain. Specifically, the protein appears to be disproportionally expressed in the cerebellum -- a brain region that some researchers suspect may govern complex aspects of cognition, in addition to its more-established role in regulating movement.

Hatten and Behesti wanted to better understand the function of ASTN2 in the adult cerebellum. An initial clue came by way of collaborators at Johns Hopkins University, who identified a family that had multiple members with ASTN2 mutations and neurodevelopmental disorders, including autism and language delays.

Study - Population - ASTN2 - Mutations - Variety

Concurrently, an independent study of a large population showed that ASTN2 mutations are associated with a wide variety of brain disorders. Hatten...
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