Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Genetic alterations in shared biological pathways as major risk factor for ASD

25.04.2014

Mount Sinai study published in American Journal of Human Genetics

A substantial proportion of risk for developing autism spectrum disorders (ASD), resides in genes that are part of specific, interconnected biological pathways, according to researchers from the Icahn School of Medicine at Mount Sinai, who conducted a broad study of almost 2,500 families in the United States and throughout the world.

The study, titled "Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders," was first published online in the American Journal of Human Genetics on April 24.

ASD affects about one percent of the population in the United States and is characterized by impairments in social interaction and communication, as well as by repetitive and restricted behaviors. ASD ranges from mild to severe levels of impairment, with cognitive function among individuals from above average to intellectual disability.

Previously, ASD has been shown to be highly inheritable, and genomic studies have revealed that that there are various sources of risk for ASD, including large abnormalities in whole chromosomes, deletions or duplications in sections of DNA – called copy number variants (CNVs), and even changes of single nucleotides (SNVs) within a gene; genes contain instructions to produce proteins that have various functions in the cell.

The researchers reported numerous CNVs affecting genes, and found that these genes are part of similar cellular pathways involved in brain development, synapse function and chromatin regulation. Individuals with ASD carried more of these CNVs than individuals in the control group, and some of them were inherited while others were only present in offspring with ASD.

An earlier study, results of which were first published in 2010, highlighted a subset of these findings within a cohort of approximately 1,000 families in the U.S. and Europe; this larger study has expanded that cohort to nearly 2,500 families, each comprising "trios" of two parents and one child. By further aggregating CNVs and SNVs (the latter identified in other studies), Mount Sinai researchers discovered many additional genes and pathways involved in ASD.

"We hope that these new findings will help group individuals with ASD based upon their genetic causes and lead to earlier diagnosis, and smarter, more focused therapies and interventions for autism spectrum disorders," said first author Dalila Pinto, PhD, Assistant Professor of Psychiatry, and Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai.

Dr. Pinto is a Seaver Foundation Faculty Fellow, and a member of the Mindich Child Health & Development Institute, the Icahn Institute for Genomics and Multiscale Biology, and the Friedman Brain Institute at the Icahn School of Medicine at Mount Sinai; other Mount Sinai researchers on this study include Mafalda Barbosa, Graduate Student in Psychiatry; Xiao Xu, PhD, Postdoctoral Fellow in Psychiatry; Alexander Kolevzon, MD, Clinical Director of the Seaver Autism Center and Associate Professor of Psychiatry and Pediatrics; and Joseph D. Buxbaum, PhD, Director of the Seaver Autism Center, Vice Chair for Research in Psychiatry, and Professor of Psychiatry, Neuroscience, and Genetics and Genomic Sciences.

###

This study was jointly supported through the main funders of the International Autism Genome Project: Autism Speaks, the Health Research Board (Ireland), the Hillbrand Foundations, the Genome Canada, the Ontario Genomics Institute, and the Canadian Institutes of Health Research.

Sid Dinsay | Eurek Alert!
Further information:
http://www.mountsinai.org

Further reports about: ASD Autism Genetic Genetics Health Medicine Seaver alterations autism spectrum disorders genes pathways

More articles from Studies and Analyses:

nachricht Innovative genetic tests for children with developmental disorders and epilepsy
11.07.2018 | Christian-Albrechts-Universität zu Kiel

nachricht Oxygen loss in the coastal Baltic Sea is “unprecedentedly severe”
05.07.2018 | European Geosciences Union

All articles from Studies and Analyses >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: First evidence on the source of extragalactic particles

For the first time ever, scientists have determined the cosmic origin of highest-energy neutrinos. A research group led by IceCube scientist Elisa Resconi, spokesperson of the Collaborative Research Center SFB1258 at the Technical University of Munich (TUM), provides an important piece of evidence that the particles detected by the IceCube neutrino telescope at the South Pole originate from a galaxy four billion light-years away from Earth.

To rule out other origins with certainty, the team led by neutrino physicist Elisa Resconi from the Technical University of Munich and multi-wavelength...

Im Focus: Magnetic vortices: Two independent magnetic skyrmion phases discovered in a single material

For the first time a team of researchers have discovered two different phases of magnetic skyrmions in a single material. Physicists of the Technical Universities of Munich and Dresden and the University of Cologne can now better study and understand the properties of these magnetic structures, which are important for both basic research and applications.

Whirlpools are an everyday experience in a bath tub: When the water is drained a circular vortex is formed. Typically, such whirls are rather stable. Similar...

Im Focus: Breaking the bond: To take part or not?

Physicists working with Roland Wester at the University of Innsbruck have investigated if and how chemical reactions can be influenced by targeted vibrational excitation of the reactants. They were able to demonstrate that excitation with a laser beam does not affect the efficiency of a chemical exchange reaction and that the excited molecular group acts only as a spectator in the reaction.

A frequently used reaction in organic chemistry is nucleophilic substitution. It plays, for example, an important role in in the synthesis of new chemical...

Im Focus: New 2D Spectroscopy Methods

Optical spectroscopy allows investigating the energy structure and dynamic properties of complex quantum systems. Researchers from the University of Würzburg present two new approaches of coherent two-dimensional spectroscopy.

"Put an excitation into the system and observe how it evolves." According to physicist Professor Tobias Brixner, this is the credo of optical spectroscopy....

Im Focus: Chemical reactions in the light of ultrashort X-ray pulses from free-electron lasers

Ultra-short, high-intensity X-ray flashes open the door to the foundations of chemical reactions. Free-electron lasers generate these kinds of pulses, but there is a catch: the pulses vary in duration and energy. An international research team has now presented a solution: Using a ring of 16 detectors and a circularly polarized laser beam, they can determine both factors with attosecond accuracy.

Free-electron lasers (FELs) generate extremely short and intense X-ray flashes. Researchers can use these flashes to resolve structures with diameters on the...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Leading experts in Diabetes, Metabolism and Biomedical Engineering discuss Precision Medicine

13.07.2018 | Event News

Conference on Laser Polishing – LaP: Fine Tuning for Surfaces

12.07.2018 | Event News

11th European Wood-based Panel Symposium 2018: Meeting point for the wood-based materials industry

03.07.2018 | Event News

 
Latest News

Machine-learning predicted a superhard and high-energy-density tungsten nitride

18.07.2018 | Materials Sciences

NYSCF researchers develop novel bioengineering technique for personalized bone grafts

18.07.2018 | Life Sciences

Why might reading make myopic?

18.07.2018 | Health and Medicine

VideoLinks
Science & Research
Overview of more VideoLinks >>>