Navigation Links
Intellectual disability is frequently caused by non-hereditary genetic problems

This release is available in French.

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. 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.


Contact: William Raillant-Clark
University of Montreal

Related medicine news :

1. New Research Demonstrates Gains in Emergent Reading Skills for Adolescents with Autism and Intellectual Disabilities
2. Alzheimers Foundation of America Applauds Social Security for Speeding Disability Benefits for Early-Onset Alzheimers Disease
3. The American Association on Health and Disability (AAHD) and the Susan G. Komen for the Cure Partner to Increase Accessibility for Women with Disabilities at Mammogram Facilities in the DC Metro Area
4. Larynx preservation treatments result in low instance of severe voice disability, nutritional dysfunction
5. Pioneering treatment reduces disability in premature babies with serious brain hemorrhage
6. Regenstrief Institute to help improve disability determination through health information technology
7. Sokolove Law Helps Thousands of Consumers Fight Unfair Disability Insurance Denial
8. Black men with chronic pain at higher risk for depression, disability
9. New Disability Benefits Could Soon Be Available to Vietnam Vets
10. Allsup Outlines Quick-Processing Methods for Social Security Disability Claims
11. Getting Help with Initial Social Security Disability Application Can Speed Access to Benefits
Post Your Comments:
(Date:11/30/2015)... , ... November 30, 2015 , ... According to Los ... people to overeat are not necessarily caused by real hunger, but instead by ... needs food. He notes that, while many patients are aware that weight loss surgery ...
(Date:11/30/2015)... (PRWEB) , ... November 30, 2015 , ... A record ... annual Regional Biotech Conference, organized by the Baruch S. Blumberg Institute. , The institute, ... of the area’s life science and biotechnology leaders for the conference, which focused on ...
(Date:11/30/2015)... ... 30, 2015 , ... A novel class of antimicrobials that ... in fighting methicillin-resistant Staphylococcus aureus (MRSA), one of the major drug-resistant bacterial pathogens, ... molecule analogs that target the functions of SecA, a central part of the ...
(Date:11/30/2015)... Scotch Plains, NJ (PRWEB) , ... November 30, ... ... is their top choice for innovative, patient centered orthopedic care. Led by ... Regardless of your injury or chronic condition, the team at Advocare Orthopedic & ...
(Date:11/30/2015)... (PRWEB) , ... November 30, 2015 , ... ... specializes in general dentistry out of Glen Ridge, NJ. He has both ... to achieve optimal mastication. He is also an expert in cosmetic dentistry. ...
Breaking Medicine News(10 mins):
(Date:11/30/2015)... November 30, 2015 North America ... expected to grow at a CAGR of 7.6% from 2015 to ... at USD 135.6 million in 2014, and is expected to grow ... According to the new Market Research Report "North America Cardiac ... End User (Hospitals, ambulatory care, others) - Analysis And Forecast To ...
(Date:11/30/2015)...  Kevin Smith has been appointed Chief Commercial ... in wireless monitoring of vital signs.  As CCO ... Mr. Smith will be responsible for the development ... will also directly oversee partnering with US hospitals ... SensiumVitals, the first early warning detection device to ...
(Date:11/30/2015)... SAN DIEGO , Nov. 30, 2015 ... ) today announced that the U.S. Food and Drug ... Application (NDA) for an extended release formulation of lorcaserin. ... a chronic weight management treatment in a once-daily dosing ... as an adjunct to a reduced-calorie diet and increased ...
Breaking Medicine Technology: