PRESS-NEWS.org - Press Release Distribution
PRESS RELEASES DISTRIBUTION

UCLA first to map autism-risk genes by function

Scientists unravel how mutations disrupt fetal brain's development

2013-11-21
(Press-News.org) Contact information: Elaine Schmidt
eschmidt@mednet.ucla.edu
310-794-2272
University of California - Los Angeles Health Sciences
UCLA first to map autism-risk genes by function Scientists unravel how mutations disrupt fetal brain's development

Pity the poor autism researcher. Recent studies have linked hundreds of gene mutations scattered throughout the brain to increased autism risk. Where do you start?

UCLA neuroscientists may have an answer. 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.

In addition, they discovered disturbances in neural circuits that define key pathways between parts of the cerebral cortex. 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.

Published in the Nov. 21 edition of Cell, the findings will help scientists understand how genetic changes cause autism on a molecular level and prioritize targets for future studies.

"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. "We need to figure out where genetic changes appear in the brain, at what stages during development and which biological processes they disrupt. Only then will we understand how mutations cause autism."

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. "Therefore, changes in the genes influence the brain's wiring by altering the synapse and shaping how neurons transmit signals to each other."

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.

"We discovered gene-related disruption of circuits that connect the autistic brain's layers and hemispheres to each other," explained Geschwind, who is director of the UCLA Neurogenetics Program and the Center for Autism Research and Treatment and co-director of the Center for Neurobehavioral Genetics at UCLA. "Our finding suggests that the mutated genes caused the miswiring; it's not a result of having the disease itself."

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.

"People often lump intellectual disability together with autism, because the disorders' risk genes overlap," said Parikshak. "We showed that these genes have unique expression patterns in different brain regions at varying times during brain development.

"Genes linked to intellectual disability influence many biological processes in the body," he added. "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."

The UCLA study will reap immediate benefits in the near future, when neuroscientists sequence the genomes of several thousand people for genetic mutations linked to autism and intellectual disability.

"We've made our analysis publically available to allow other researchers to expand upon our study and explore the data in detail," said Geschwind. "We believe this will mark an important step forward in understanding the biology behind autism and other neurodevelopmental disorders."



INFORMATION:

The Simons Foundation and National Institute of Mental Health funded the study. Geschwind and Parikshak's coauthors included Rui Luo, Alice Zhang Hyejung Won, Jennifer Lowe, Vijayendran Chandran and Steve Horvath, all of UCLA.

The Semel Institute for Neuroscience and Human Behavior is an interdisciplinary research and education institute devoted to the understanding of complex human behavior, including the genetic, biological, behavioral and sociocultural underpinnings of normal behavior, and the causes and consequences of neuropsychiatric disorders. In addition to conducting fundamental research, the institute faculty seeks to develop effective strategies for prevention and treatment of neurological, psychiatric and behavioral disorder, including improvement in access to mental health services and the shaping of national health policy.



ELSE PRESS RELEASES FROM THIS DATE:

New link between obesity and diabetes found

2013-11-21
New link between obesity and diabetes found Targeting a single enzyme that raises both sugar and insulin levels in the obese could prevent and treat diabetes NEW YORK, NY (November 21, 2013) –A single overactive enzyme worsens the two core defects ...

Researchers identify genomic variant associated with sun sensitivity, freckles

2013-11-21
Researchers identify genomic variant associated with sun sensitivity, freckles NIH-funded work finds genetic switch for pigmentation trait in non-coding, regulatory region of newly associated gene Researchers have identified a genomic ...

The company you keep shapes what you learn

2013-11-21
The company you keep shapes what you learn Research from Universities of Leicester, Sussex and Cambridge into desert locusts discovers how your environment shapes your thinking A team of scientists has shown how the environment shapes learning and memory by ...

Growth more stunted in lower-income youth with kidney disease

2013-11-21
Growth more stunted in lower-income youth with kidney disease NIH-funded study suggests increasing treatment adherence may help Even with more prescriptions for growth hormone, children and adolescents with chronic ...

Targets of anticancer drugs have broader functions than what their name suggests

2013-11-21
Targets of anticancer drugs have broader functions than what their name suggests Findings have implications for oncology, diabetes drug development PHILADELPHIA - Drugs that inhibit the activity of enzymes called histone deacetylases ...

2 human proteins found to affect how 'jumping gene' gets around

2013-11-21
2 human proteins found to affect how 'jumping gene' gets around Using a new method to catch elusive "jumping genes" in the act, researchers have found two human proteins that are used by one type of DNA to replicate itself and move from place to place. The discovery, ...

Follow the genes: Yale team finds clues to origin of autism

2013-11-21
Follow the genes: Yale team finds clues to origin of autism Finding major new clues to the origins of autism, a Yale-led team of researchers has pinpointed which cell types and regions of the developing human brain are affected by gene mutations linked to autism. ...

UT Dallas study: Initial success for new tinnitus treatment

2013-11-21
UT Dallas study: Initial success for new tinnitus treatment UT Dallas researchers have demonstrated that treating tinnitus, or ringing in the ears, using vagus nerve stimulation-tone therapy is safe and brought significant improvement to some of the participants ...

Intestinal bacteria influence food transit through the gut

2013-11-21
Intestinal bacteria influence food transit through the gut Food transit through the small intestine affects the body's absorption of nutrients and, consequently, our health. The discovery that food transit time is regulated by a hormone indicates new ways to ...

Attractants prevent nerve cell migration

2013-11-21
Attractants prevent nerve cell migration Researchers from Bonn University decode a roadblock to nerve cell transplantation A vision is to implant nerve precursor cells in the diseased brains of patients with Parkinson's and Huntington's diseases, whereby ...

LAST 30 PRESS RELEASES:

Thirty-year mystery of dissonance in the “ringing” of black holes explained

Less intensive works best for agricultural soil

Arctic rivers project receives “national champion” designation from frontiers foundation

Computational biology paves the way for new ALS tests

Study offers new hope for babies born with opioid withdrawal syndrome

UT, Volkswagen Group of America celebrate research partnership

New Medicare program could dramatically improve affordability for cancer drugs – if patients enroll

Are ‘zombie’ skin cells harmful or helpful? The answer may be in their shapes

University of Cincinnati Cancer Center presents research at AACR 2025

Head and neck, breast, lung and survivorship studies headline Dana-Farber research at AACR Annual Meeting 2025

AACR: Researchers share promising results from MD Anderson clinical trials

New research explains why our waistlines expand in middle age

Advancements in muon detection: Taishan Antineutrino Observatory's innovative top veto tracker

Chips off the old block

Microvascular decompression combined with nerve combing for atypical trigeminal neuralgia

Cutting the complexity from digital carpentry

Lung immune cell type “quietly” controls inflammation in COVID-19

Fiscal impact of expanded Medicare coverage for GLP-1 receptor agonists to treat obesity

State and sociodemographic trends in US cigarette smoking with future projections

Young adults drive historic decline in smoking

NFCR congratulates Dr. Robert C. Bast, Jr. on receiving the AACR-Daniel D. Von Hoff Award for Outstanding Contributions to Education and Training in Cancer Research

Chimpanzee stem cells offer new insights into early embryonic development

This injected protein-like polymer helps tissues heal after a heart attack

FlexTech inaugural issue launches, pioneering interdisciplinary innovation in flexible technology

In Down syndrome mice, 40Hz light and sound improve cognition, neurogenesis, connectivity

Methyl eugenol: potential to inhibit oxidative stress, address related diseases, and its toxicological effects

A vascularized multilayer chip reveals shear stress-induced angiogenesis in diverse fluid conditions

AI helps unravel a cause of Alzheimer's disease and identify a therapeutic candidate

Coalition of Autism Scientists critiques US Department of Health and Human Services Autism Research Initiative

Structure dictates effectiveness, safety in nanomedicine

[Press-News.org] UCLA first to map autism-risk genes by function
Scientists unravel how mutations disrupt fetal brain's development