Featured Research

from universities, journals, and other organizations

Intellectual disability is frequently caused by non-hereditary genetic problems, study finds

Date:
April 25, 2011
Source:
University of Montreal
Summary:
Mutations in a group of genes associated with brain activity frequently cause intellectual disability, according to a new study.

Mutations in a group of genes associated with brain activity frequently cause intellectual disability, according to a study led by scientists affiliated with the University of Montreal and the research centre at the Centre hospitalier universitaire Sainte-Justine.

Related Articles


Intellectual disability is a severe handicap that affects between one and two percent of children worldwide. It can often be attributed to genetic causes, but the specific genes involved were mostly unknown. "The group of genes we identified all play important roles in nerve synapses, the structures that allow brain cells to rapidly transfer information," explained senior author Dr. Jacques Michaud. "These findings indicate that, in this case, intellectual disability occurs because there is a disruption in nerve cell communication."

Some intellectual disabilities are associated with physical abnormalities that indicate major genetic abnormalities. However, in other cases disabilities are not associated with obvious physical traits "We targeted non-syndromic patients," Michaud said. Together with his colleagues from the Synapse to Disease Project, Michaud analyzed DNA from the patients to identify mutations that were not inherited but were in fact newly formed. These are called de novo mutations. They studied 197 synaptic genes and identified de novo mutations in 10 of the 95 patients. Further studies indicated that all of these mutations affect nerve cell communication, which lead the team to conclude that at least two-thirds of the mutations are the definitive cause of the disorder.

"This finding aligns with our previous work that shows that de novo mutations play important roles in disorders such as autism and schizophrenia," said co-author Guy Rouleau. "Our study indicates that a large fraction of cases with intellectual disability have a genetic origin but are not hereditary. These findings will lead to improved diagnostics," added co-author Fadi Hamdan.

The study was published in the American Journal of Human Genetics and received financing from the Canadian Institutes of Health Research. Centre hospitalier universitaire Sainte-Justine (CHUSJ) and Centre hospitalier de l'Université de Montréal (CHUM) can be translated to Saint-Justine University Hospital Centre and University of Montreal Hospital Centre, respectively. Michaud, Rouleau and Hamdan are affiliated with the University of Montreal's Centre of Excellence in Neuromics and the CHUSJ Research Centre. Rouleau is the Director of the CHUSJ Research Centre and is also affiliated with the University of Montreal's Department of Medicine.


Story Source:

The above story is based on materials provided by University of Montreal. Note: Materials may be edited for content and length.


Journal Reference:

  1. Fadi F. Hamdan, Julie Gauthier, Yoichi Araki, Da-Ting Lin, Yuhki Yoshizawa, Kyohei Higashi, A-Reum Park, Dan Spiegelman, Sylvia Dobrzeniecka, Amélie Piton. Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability. The American Journal of Human Genetics, 2011; 88 (3): 306 DOI: 10.1016/j.ajhg.2011.02.001

Cite This Page:

University of Montreal. "Intellectual disability is frequently caused by non-hereditary genetic problems, study finds." ScienceDaily. ScienceDaily, 25 April 2011. <www.sciencedaily.com/releases/2011/04/110418114005.htm>.
University of Montreal. (2011, April 25). Intellectual disability is frequently caused by non-hereditary genetic problems, study finds. ScienceDaily. Retrieved April 20, 2015 from www.sciencedaily.com/releases/2011/04/110418114005.htm
University of Montreal. "Intellectual disability is frequently caused by non-hereditary genetic problems, study finds." ScienceDaily. www.sciencedaily.com/releases/2011/04/110418114005.htm (accessed April 20, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Monday, April 20, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Humanoid Robot Can Recognise and Interact With People

Humanoid Robot Can Recognise and Interact With People

Reuters - Innovations Video Online (Apr. 20, 2015) — An ultra-realistic humanoid robot called &apos;Han&apos; recognises and interprets people&apos;s facial expressions and can even hold simple conversations. Developers Hanson Robotics hope androids like Han could have uses in hospitality and health care industries where face-to-face communication is vital. Matthew Stock reports. Video provided by Reuters
Powered by NewsLook.com
Labour Party Warns Britain's Health Service 'on Life Support'

Labour Party Warns Britain's Health Service 'on Life Support'

AFP (Apr. 20, 2015) — Britain&apos;s opposition Labour Party Monday claimed the National Health Service (NHS) was &apos;on life support&apos; as it turned its attention to the state-run service, which is a key issue for the UK&apos;s May 7 general election. Video provided by AFP
Powered by NewsLook.com
Sierra Leone Students Back to School After Long Ebola Closure

Sierra Leone Students Back to School After Long Ebola Closure

Reuters - News Video Online (Apr. 20, 2015) — After an eight-month break, children in Sierra Leone return to school for the first time since the beginning of the Ebola outbreak. Nathan Frandino reports. Video provided by Reuters
Powered by NewsLook.com
Teen E-Cigarette Use Triples, Government Debates Regulations

Teen E-Cigarette Use Triples, Government Debates Regulations

Newsy (Apr. 19, 2015) — The Centers for Disease Control and Prevention says in 2014, 13.4 percent of high school students reported smoking an e-cigarette within 30 days. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins