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 – caused by the deletion of a small piece of chromosome 16 – is present in one-third of people with autism. People who have this condition are missing certain genes, resulting in impaired communication and social skills and delayed intellectual development, 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 to inhibit neurons from firing, she said.
Researchers gave the drug to mice that also have 16p11.2 deletion syndrome and then tested their social interactions with other mice, learning and memory.
“Two unfamiliar mice would interact and we would score them on whether they followed each other, sniffed each other and had contact,” Crawley said. “The scores were elevated in the mice that had taken R-baclofen.”
The mice also showed more curiosity and interest in exploring new play structures, whereas mice who had not been given the drug tended to stick to familiar objects and play things.
A comparable study was also performed on mice at the Massachusetts Institute of Technology Picower Institute and showed the same signs of improvement in mice that had been given R-baclofen. “Having two labs finding the same thing is very useful,” Crawley said.
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.