A new study has discovered a genetic mutation that causes autism spectrum disorder and other intellectual disabilities. The study's findings were originally published in the journal Neuron.
“We have solved an important piece of the puzzle in understanding how this mutation causes intellectual disabilities and mental illness,”lead author Peter Penzes, director of the new Center for Autism and Neurodevelopment and professor of Physiology and Psychiatry and Behavioral Science, told a news portal.
The team discovered a genetic mutation in a gene known as Usp9x causes the brain to grow fewer synapses during the developmental stage. Researchers say in order for the brain to function well, it needs to build many synapses between neurons so cells can better communicate.
"Over the past few years, many genetic causes of autism and related disorders have been found, which could provide insight into its neurobiological bases,” Penzes told a news portal. Adding, "The next major challenge is to understand the function of these genes in shaping the development of brain circuits and how their improper function may derail neurodevelopment. These genes and neurodevelopmental processes could serve as targets for new drugs aimed at treating autism and related disorders."
Michael Piper, an Associate Professor at UQ School of Biomedical Sciences, believes it is important to investigate the network instead of individual genes to find better treatment options for the condition. "Treating ID and ASD one gene at a time is not feasible, as more than 1000 genes have been implicated in the conditions," Dr Piper told a news portal. Adding, "Research is switching to identifying networks in which multiple genes function in common pathways, such as USP9X."
Dr Piper further explained: "USP9X regulates a family of proteins that control how nerves communicate and share information. By targeting this network, there is a possibility that treatments could be developed that will help a wide range of patients."
Another study, conducted by Dartmouth College researchers, have found a non-verbal marker that could be a sign of autism. "Autism is hard to screen for in children, when the first signs are present. A trained clinician may be able to detect autism at 18-months or even younger; yet, the average age of a diagnosis of autism in the U.S. is about four years old," lead author Caroline Robertson, an assistant professor of psychological and brain sciences at Dartmouth, told a news portal. Adding, "We need objective, non-invasive screening tools that don't depend on assessing a child's behaviour. One of the big goals of the field is to develop objective neural markers of autism that can work with non-verbal individuals. This neural marker is just that."
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