SCIENCE — bio — brain

UCLA First to Map Autism-risk Genes by Function

Posted 5 months ago
by University of California - Los Angeles Health Sciences

Recent studies have linked hundreds of gene mutations scattered throughout the brain to increased autism risk. They are the first to map groups of autism-risk genes by function, and to identify where and when these genes normally play major roles in early brain development. The research suggests that these early disruptions are created by mutations in genes during fetal brain development and are not a result of autism itself.

"Identifying gene variants that boost risk is only the first step of unraveling a disease," explained lead author Dr. Daniel Geschwind, the Gordon and Virginia MacDonald Distinguished Professor of Human Genetics, professor of neurology at the David Geffen School of Medicine at UCLA and professor of psychiatry at the Semel Institute for Neuroscience and Human Behavior. "

Using an online atlas called BrainSpan, the authors charted gene activity in the developing brain before birth. In particular, they examined what happens during gene expression --when genes copy data from DNA to RNA in order to create proteins.

Geschwind and his colleagues found high activity in risk genes during two processes critical to early brain development.

"We found that gene variants are expressed in the developing brain when cells define their future identities and roles in neural circuits," first author Neelroop Parikshak, a graduate student researcher in Geschwind's lab. "

The mutated genes also interfered with how the brain's layers and halves relate to one another, a phenomenon confirmed by previous imaging studies of the autistic brain. "

The UCLA team also demonstrated that while autism and intellectual disability share similar risk genes, the genes behave uniquely, showing for the first time how the two disorders differ. "We showed that these genes have unique expression patterns in different brain regions at varying times during brain development. "But genes tied to autism tend to affect specific functions, such as the connections between brain regions that are essential to many human-specific behaviors, like speech and language.


This story provided by ScienceNewsline, the daily online science and technology news portal. The views expressed in this article are those of the authors and do not necessarily reflect the official policy or position of the ScienceNewsline or Technobahn.com.

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Keywords related on: Brain, Genes, Autism, Ucla, Geschwind, Risk, Intellectual, Disability, Professor, Processes, Disorders, Development, Variants, Step, Regions, Parikshak, Mutations, Layers, Influence, Human, Genetics, Genetic, Gene, Future, Found, Disease, Circuits, Center, Biological, Autistic, Author, …
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