Navigation Links
Researchers report new autism genes discovered
Date:6/9/2010

University of Illinois at Chicago researchers are part of an international consortium working with Autism Speaks, the world's largest autism science and advocacy organization, which today reports new autism genetic discoveries.

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 DDX53PTCHD1 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.


'/>"/>

Contact: Sherri McGinnis Gonzlez
smcginn@uic.edu
312-996-8277
University of Illinois at Chicago
Source:Eurekalert

Related medicine news :

1. Simple eye test measures damage from multiple sclerosis, UT Southwestern researchers find
2. B2Discovery: Entrepreneurs and researchers join forces to conquer cancer
3. Researchers Report Treatment Headway Against Lung Cancer
4. MSU researchers discover potential genetic factor in eating disorders
5. Mount Sinai researchers approaching universal treatment for all strains of influenza
6. Leading physicians and researchers at the John Theurer Cancer Center present research at ASCO
7. Basque researchers apply chemistry to restoration of paintings and dating of signatures
8. Researchers offer solutions to poisonous well-water crisis in southern Asia
9. Researchers report no difference in breast cancer characteristics after oophorectomy
10. Vanderbilt researchers play major role in new center on electronic health information privacy
11. Pitt researchers discover gene mutation linked to lymphatic dysfunction
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/13/2017)... ... 2017 , ... The American Board of Family Medicine's (ABFM) Board of Directors ... Officer, succeeding Dr. James C. Puffer upon his retirement. Dr. Newton will serve in ... retirement at the end of 2018. Upon assuming the role of President and CEO ...
(Date:10/13/2017)... , ... October 13, 2017 ... ... of Pharmacy (SOP) alumni Hannah Randall, PharmD ‘17, and Jennifer Huggins, PharmD ... on guideline updates for the primary prevention of cardiovascular diseases during the ...
(Date:10/13/2017)... (PRWEB) , ... October 13, 2017 , ... Many families ... However, many long-term care insurance companies have a waiver for care if the client ... elimination period, when the family pays for care, is often waived, so the benefits ...
(Date:10/13/2017)... , ... October 13, 2017 , ... Global Healthcare Management’s ... Alexandria Park in Milford, NJ. This free event, sponsored by Global Healthcare Management’s ... The fun run is geared towards children of all ages; it is a ...
(Date:10/13/2017)... ... October 13, 2017 , ... Coveros, a leader in agile ... a contract by the Center for Medicare and Medicaid Services (CMS). The Enterprise ... use of Agile methodologies in a consistent and high value manner across CMS ...
Breaking Medicine News(10 mins):
(Date:10/4/2017)... LAWRENCE, Mass. , Oct. 4, 2017 /PRNewswire/ ... developer of single-use, self-contained, illuminating medical devices, today ... National Health Surveillance Agency (or Agência Nacional ... ®. The first single-use, cordless surgical retractor with ... ONETRAC provides optimal access, illumination and exposure of ...
(Date:10/2/2017)... Oct. 2, 2017  Eli Lilly and Company (NYSE: ... for the third quarter of 2017 on Tuesday, October ... on that day with the investment community and media ... The conference call will begin at 9 a.m. Eastern ... a live webcast of the conference call through a ...
(Date:10/2/2017)... Halo Labs announces the European launch of their new low volume, ... 2017 in Cambridge, U.K on October 4th. ... samples with unprecedented speed and sensitivity while using far less sample ... ... system ...
Breaking Medicine Technology: