A team of UCLA-led scientists has discovered important clues to what goes wrong in the brains of people with autism — a developmental disorder with no cure and for which scientists have no deep understanding of what causes it, the university announced Wednesday.
The new insights involve RNA editing, in which genetic material is normal, but modifications in RNA alter nucleotides, whose patterns carry the data required for constructing proteins.
“RNA editing is probably having a substantial physiologic effect in the brain, but is poorly understood,” said co-author Dr. Daniel Geschwind, UCLA’s Gordon and Virginia MacDonald distinguished professor of human genetics, neurology and psychiatry and director of UCLA’s Institute for Precision Health.
“RNA editing is a mysterious area whose biological implications have not been much explored,” he said. “We know what only a handful of these RNA editing sites do to proteins. This study gives a new critical clue in understanding what has gone awry in the brains of autism patients.”
More than 24 million people worldwide are estimated to have autism. In developed countries, about 1.5 percent of children have been diagnosed with autism spectrum disorder as of 2017. The disorder affects communication and behavior, and is marked by problems in social communication and social interaction, and repetitive behaviors.
“We need to understand how a panoply of genetic and environmental factors converges to cause autism,” Geschwind said. “RNA editing is an important piece of the autism puzzle that has been totally under-appreciated.”
The researchers analyzed brain samples from 69 people who died, about half of whom had autism spectrum disorder — which includes autism and related conditions — and about half of whom did not and served as a control group.
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