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Researchers at UC Davis MIND Institute may have found a drug that can reverse symptoms of a rare genetic condition associated with autism.
The 16p11.2 deletion syndrome is caused by the deletion of a small piece of chromosome 16. About one third of the people with this syndrome also suffer from autism. People who have this condition are missing certain genes, resulting in impaired communication and social skills and intellectual impairment, said Jacqueline Crawley, the lead researcher in the study.
The drug that may help is called R-baclofen. It interacts with a specific kind of neurotransmitter receptor to inhibit neurons from firing, she said.
Researchers gave the drug to mice with the same genetic mutation as 16p11.2 deletion syndrome and then tested their social interactions with other mice, learning and memory.
“We scored social interactions between two unfamiliar mice on how much they followed each other, sniffed each other and had physical contact,” Crawley said in a written statement. “16p11.2 mice scored lower than control mice on some of these social parameters. The scores were elevated in the 16p11.2 mice treated with R-baclofen.”
A parallel study was also performed on mice at the Massachusetts Institute of Technology Picower Institute. It also showed signs of cognitive improvement in mice that had been given R-baclofen.
A third study is now underway in four different labs to find out if the results can be reproduced and are viable for further study. If successful, R-baclofen will be one step closer to being studied on people with the 16p11.2 deletion syndrome in a clinical trial. It can take anywhere from two to 10 years to reach this point, Crawley said.