Autism researchers discover genetic 'Rosetta Stone'
Opposing defects in a single neuronal protein lead either to epilepsy in infancy or to autism
Date:
January 26, 2017
Source:
University of California - San Francisco
Summary:
Distinct sets of genetic defects in a single neuronal protein can lead either to infantile epilepsy or to autism spectrum disorders (ASDs), depending on whether the respective mutations boost the protein's function or sabotage it, according to a new study.
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These findings are a first step toward understanding how different subtle changes in neural function in utero could lead to the development of either a seizure-prone brain or an autistic brain in infancy, the authors say.
Credit: © makaule / Fotolia
Distinct sets of genetic defects in a single neuronal protein can lead either to infantile epilepsy or to autism spectrum disorders (ASDs), depending on whether the respective mutations boost the protein's function or sabotage it, according to a new study by UC San Francisco researchers. Tracing how these particular genetic defects lead to more general changes in brain function could unlock fundamental mysteries about how events early in brain development lead to autism, the authors say.
https://www.sciencedaily.com/releases/2017/01/170126083605.htm
