Gene repair improves memory and seizures in adult asd model

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firemonkey
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27 Apr 2019, 5:05 am

JUPITER, Fla. - April 29, 2019 - A new study challenges the presumption that people born with developmental brain disorders such as severe autism will benefit from medical interventions only if treated during a narrow window in infancy or early childhood.

Writing in the journal eLife, an open-access scientific journal, the Rumbaugh lab at Scripps Research in Florida reports improvement in measures of seizure and memory in adult mouse models of a genetic cause of autism, called SYNGAP1 disorder.

Children born with only one working copy of the SYNGAP1 gene don't make enough of the critical SynGAP protein. Two broken copies is lethal. Depending on the extent of their deficit, these children can develop a range of developmental challenges as they mature. This may include intellectual disability, autism-like behaviors, disordered sensory processing, and epileptic seizures that don't respond to medication. The disorder likely affects one to four individuals per 10,000, similar to the frequency of Fragile X syndrome, says Gavin Rumbaugh, PhD, an associate professor in the Department of Neuroscience at Scripps Research in Florida.


https://www.eurekalert.org/pub_releases ... 042619.php


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