An international team of researchers have congregated at the University of California at San Diego, and have discovered that instances of misfolding and molecular anomalies within a brain protein are connected with the autism. The study was lead by Palmer Taylor, who is the associate vice-chancellor for Health Sciences at the University of California San Diego and Dean of the Skaggs School of Pharmacy and Pharmaceutical Sciences.
The protein in question, neuroligin-3, can become misfolded as a result of gene mutation. The gene mutation has been previously found in parents of children with autism. The misfolding then leads to deficiencies that can disturb and change communications between neurons.
When any of the neuroligin proteins are misfolded, they usually do not mature the way they should or they don’t function properly.
Taylor said: “It makes sense that there’s a connection. The neuroligins are involved in maintaining neuronal synapses and their malfunction is likely to affect a neurodevelopmental disease.”
Neuroligins operate by connecting with neurexins and and serving as a bridge between neurons and the synapses.
The steps taken by the team are pretty major, as neuroligins and autism mutations haven’t been around long in science. Taylor is confident that this research will assist autism studies particularly with regard to deciphering specific autisms and their causes, what kind of factor genetics play in autism, and developing new drugs that could help children.
Davide Comoletti, co-author, added: “If the mutation is identified early, it might be possible to rescue affected neurons before abnormal synaptic connections are established. But much work remains. We may be able to find a treatment to fix a cell in culture, but to rescue function in vivo may not be feasible with the same strategy.”