The results, from the second phase of the collaborative Autism Genome Project, are published in the June 10 issue of the journal Nature.
Autism is a complex neurobiological disorder that inhibits a person's ability to communicate and develop social relationships, and is often accompanied by behavioral challenges. Autism spectrum disorders are diagnosed in one in 110 children in the U.S., affecting four times as many boys as girls.
The new report shows that individuals with autism tend to carry more sub-microscopic insertions and deletions called copy-number variants (CNV) in their genome than nonautistic people do. Some of these CNV appeared to be inherited, while others are considered new because they are found only in affected offspring and not in the parents. Taken together, more of the CNVs disrupt genes previously reported to be implicated in intellectual disability without autism or in autism than expected by chance.
The findings are based on analysis of high-density genotyping data collected from 1,000 individuals with autism spectrum disorder (ASD) and 1,300 without ASD.
The new study also identified new autism susceptibility genes including SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53–PTCHD1 locus. Some of these genes belong to synapse-related pathways, while others are involved in cellular proliferation, projection and motility, and intracellular signaling, functional targets that may lead to the development of new treatment approaches.
These findings further support an emerging consensus within the scientific community that autism is caused in part by many "rare variants" or genetic changes found in less than 1 percent of the population. While each of these variants may only account for a small fraction of the cases, collectively they are starting to account for a greater percentage of individuals in the autism community, as well as providing insights into possible common pathogenic mechanisms.
The overlap between autism susceptibility genes and genes previously implicated in intellectual disabilities further supports the hypothesis that at least some genetic risk factors are shared by different psychiatric developmental disabilities. The identification of these biological pathways points to new avenues of scientific investigation, as well as potential targets for the development of novel treatments, according to the authors.
"These results are another step on the long path to sufficiently understanding autism to further develop treatments for the core symptoms of autism," says Dr. Edwin Cook, UIC professor of psychiatry.
"At the Autism Center of Excellence at UIC, we continue to work to understand the genetics, neurobiology, and treatment of autism," he said.
The Autism Center of Excellence continues to recruit subjects into its study of compulsive behavior in autism. More information is available at www.psych.uic.edu/ldn/autism.htm or by calling (312) 413-4624. The UIC Autism Center of Excellence is supported in part by a grant from the Eunice Kennedy Shriver National Institute Of Child Health & Human Development of the National Institutes of Health.
The Autism Genome Project is an international autism genetics research consortium co-funded by Autism Speaks, the Medical Research Council, Canadian Institutes of Health Research, Health Research Board (Ireland), Genome Canada and the Hilibrand Foundation. The project consists of 120 scientists from more than 60 institutions in 11 countries who formed a first-of-its-kind autism genetics consortium.
The project plans to further investigate rare variants, requiring larger sample sets to identify more CNV. Additional support for Phase 2 of the AGP was provided by the National Institutes of Health. The first phase of the project, the assembly of the largest-ever autism DNA collection and whole-genome linkage scan, was funded by Autism Speaks and the National Institutes of Health and completed in 2007.
Sherri McGinnis González | EurekAlert!
Cancer diagnosis: no more needles?
25.05.2018 | Christian-Albrechts-Universität zu Kiel
Less is more? Gene switch for healthy aging found
25.05.2018 | Leibniz-Institut für Alternsforschung - Fritz-Lipmann-Institut e.V. (FLI)
The more electronics steer, accelerate and brake cars, the more important it is to protect them against cyber-attacks. That is why 15 partners from industry and academia will work together over the next three years on new approaches to IT security in self-driving cars. The joint project goes by the name Security For Connected, Autonomous Cars (SecForCARs) and has funding of €7.2 million from the German Federal Ministry of Education and Research. Infineon is leading the project.
Vehicles already offer diverse communication interfaces and more and more automated functions, such as distance and lane-keeping assist systems. At the same...
A research team led by physicists at the Technical University of Munich (TUM) has developed molecular nanoswitches that can be toggled between two structurally different states using an applied voltage. They can serve as the basis for a pioneering class of devices that could replace silicon-based components with organic molecules.
The development of new electronic technologies drives the incessant reduction of functional component sizes. In the context of an international collaborative...
At the LASYS 2018, from June 5th to 7th, the Laser Zentrum Hannover e.V. (LZH) will be showcasing processes for the laser material processing of tomorrow in hall 4 at stand 4E75. With blown bomb shells the LZH will present first results of a research project on civil security.
At this year's LASYS, the LZH will exhibit light-based processes such as cutting, welding, ablation and structuring as well as additive manufacturing for...
There are videos on the internet that can make one marvel at technology. For example, a smartphone is casually bent around the arm or a thin-film display is rolled in all directions and with almost every diameter. From the user's point of view, this looks fantastic. From a professional point of view, however, the question arises: Is that already possible?
At Display Week 2018, scientists from the Fraunhofer Institute for Applied Polymer Research IAP will be demonstrating today’s technological possibilities and...
So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics
Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...
25.05.2018 | Event News
02.05.2018 | Event News
13.04.2018 | Event News
25.05.2018 | Event News
25.05.2018 | Machine Engineering
25.05.2018 | Life Sciences