Navigation Links
New form of intellectual disability discovered
Date:4/27/2012

(Toronto) - Researchers at the Centre for Addiction and Mental Health (CAMH) led a study discovering a gene for a new form of intellectual disability, as well as how it likely affects cognitive development by disrupting neuron functioning.

CAMH Senior Scientist Dr. John Vincent and his team found a mutation in the gene NSUN2 among three sisters with intellectual disability, a finding to be published in the May issue of the American Journal of Human Genetics.

The discovery was made after mapping genes in a Pakistani family, in which three of seven siblings had intellectual disability as well as muscle weakness and walking difficulties, says Dr. Vincent, who heads the Molecular Neuropsychiatry and Development Laboratory in the Campbell Family Mental Health Research Institute at CAMH.

Intellectual disability is a condition in which individuals have limitations in their mental abilities and in functioning in daily life. It affects one to three per cent of the population, and is often caused by genetic mutations.

Another study in the same journal, submitted together with the CAMH-led research, also identified NSUN2 gene mutations in Iranian and Kurdish families with intellectual disability. As with the Pakistani family, first cousin marriages in these families carrying the mutations increased the likelihood of intellectual disability among their children, and enabled researchers to focus on areas to map genes.

"The combined results from these two studies mean that NSUN2 is among the most common causes of intellectual disability resulting from recessive genes," says Dr. Vincent.

As a recessive disorder, a child must inherit one defective NSUN2 gene from each parent to develop intellectual disability. This gene, located on chromosome 5p, encodes a type of protein called an RNA methyltransferase.

At the cellular level, the researchers found that the mutated protein was prevented from reaching its target area within the nucleus of a cell. As a result, it was unable to perform its normal role in cell division and/or RNA methylation.

Collaborators from the Wellcome Trust Centre for Stem Cell Research in Cambridge, U.K., showed which type of brain cells were likely to be most affected by this mutation. They are called Purkinje cells, a type of neuron that responds to the neurotransmitter GABA. Purkinje cells also control motor coordination, which were affected in the Pakistani family.

"We speculate that the muscle effects may result from the accumulation of the NSUN2 protein outside its target area in the nucleus," says Dr. Vincent.

To date, Dr. Vincent's lab has identified five genes causing different forms of recessive intellectual disability.


'/>"/>
Contact: Michael Torres
media@camh.net
416-595-6015
Centre for Addiction and Mental Health
Source:Eurekalert

Related biology news :

1. Researchers at Cruces Hospital describe new syndrome of slight family intellectual disability
2. Mutant flies shed light on inherited intellectual disability
3. CAMH researcher discovers new gene that causes intellectual disability
4. Manganese in drinking water: Study suggests adverse effects on childrens intellectual abilities
5. New genetic test for cause of intellectual disability to be launched
6. delSECUR CORPORATION Announces Agreement to Purchase the Intellectual Property Assets of the Corporation
7. delSECUR CORPORATION Announces Agreement to Purchase the Intellectual Property Assets of the Corporation
8. Measuring intellectual disability
9. Interventional radiologists take lead on reducing disability from dangerous blood clots
10. High death and disability rates due to fractures in Russia, Central Asia and Eastern Europe
11. It takes only 5 minutes to assess disability in patients with depression
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/19/2016)... DUBAI , UAE, April 20, 2016 ... can be implemented as a compact web-based "all-in-one" system ... in the biometric fingerprint reader or the door interface ... requirements of modern access control systems. The minimal dimensions ... the ID readers into the building installations offer considerable ...
(Date:3/31/2016)... BOCA RATON, Florida , March 31, 2016 /PRNewswire/ ... LEGX ) ("LegacyXChange" or the "Company") ... presentation for potential users of its soon to be ... The video ( https://www.youtube.com/channel/UCyTLBzmZogV1y2D6bDkBX5g ) will also ... by the use of DNA technology to an industry ...
(Date:3/22/2016)... PROVO and SANDY, ... Screening Ontario (NSO), which operates the highest sample volume ... testing, and Tute Genomics and UNIConnect, leaders in clinical ... today announced the launch of a project to establish ... testing panel. NSO has been contracted ...
Breaking Biology News(10 mins):
(Date:5/2/2016)... ... May 02, 2016 , ... F.E.E.D. Co., the ... of their revolutionary, veterinarian-designed product for indoor cats. The NoBowl Feeding System replaces ... their food the way nature intended. NoBowls make cats happy and healthy. , ...
(Date:4/29/2016)... ... April 29, 2016 , ... During a two ... into a viable company, CereScan’s CEO, John Kelley, joined other Denver business leaders ... and mentor in the Denver area business community, shared his top fundamental learnings ...
(Date:4/28/2016)... NEW YORK , April 28, 2016 /PRNewswire/ ... biotechnology acceleration company reports the Company,s CEO  was ... capital titled Accelerators Enter When VCs Fear To ... Life Science Leader magazine is an ... work for everything from emerging biotechs to Big ...
(Date:4/27/2016)... ... 2016 , ... Cambridge Semantics, the leading provider of Smart Data ... has been named to The Silicon Review’s “20 Fastest Growing Big Data Companies of ... serves the needs of end users facing some of the most complex data challenges ...
Breaking Biology Technology: