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 i
'/>"/>

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

Page: 1 2

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:7/11/2014)... many fires burning in eastern New South Wales, Australia ... , At 03:35 UTC on July 11 (12:35 p.m. ... passed over eastern New South Wales (NSW), the Moderate ... image of the region and spotted smoke (light brown) ... thermal bands, are outlined in red. , The New ...
(Date:7/11/2014)... USC Stem Cell scientists have set a "mouse TRAP" ... described by a recent study published in the ... line uses a technique called TRAP to extract cellular ... , Invented by scientists at the Rockefeller Institute for ... tag to the protein-making machinery, or ribosomes, of the ...
(Date:7/11/2014)... international team of researchers, including scientists from the Max ... a reported a major step in understanding photosynthesis, the ... maintains the oxygen in its atmosphere and which is ... earth. , The researchers report the first direct ... namely the step in which a specific protein complex, ...
Breaking Biology News(10 mins):A first direct glimpse of photosynthesis in action 2
... Particle Whisperers , G. Volpe, S. Perrone, J. M. Rubi, ... As many parents know, it,s often easier to keep your ... A child who fidgets uncontrollably in a confining booster seat, ... chair. A team of physicists at the Universitat de Barcelona ...
... bubonic plague may be more virulent than their close relatives ... in the May issue of the journal Microbiology. The ... at body temperature. When there is no calcium available, it ... acid, said Professor Brubaker from the University of Chicago, USA. ...
... health organisations around the world. The worry is the potential ... develop the ability to infect humans easily. New drugs and ... needed. Now one of the tactics used by influenza virus ... laid bare by structural biologists at the European Molecular Biology ...
Cached Biology News:A gentle touch for better control, a quantum mechanical con, and milestone PRL papers 2A gentle touch for better control, a quantum mechanical con, and milestone PRL papers 3A gentle touch for better control, a quantum mechanical con, and milestone PRL papers 4Getting wise to the influenza virus' tricks 2
(Date:7/11/2014)... 2014 EPFL and the University of  ... of John P. Donoghue . The American neuroscientist ... . The new Wyss Center for ... Geneva , has named as its director ... P. Donoghue , founder of Brown University,s Institute for ...
(Date:7/10/2014)... Toronto, Canada (PRWEB) July 10, 2014 ... often present in very low abundance and are ... quite challenging and time-consuming. , Join presenters Dr. ... Laboratories, and Dr. John Anders, Head of Quality ... mass spectrometer-based approach that can speed detection and ...
(Date:7/10/2014)... (PRWEB) July 10, 2014 Robert Harman, DVM, ... Medicine company, is proud to announce the relaunch of his ... with a new series called “ What are Stem Cells ... an honest and straightforward foundation in the basics of stem ... decision on the right type of treatment when considering regenerative ...
(Date:7/10/2014)... ST. PETERSBURG, Russia , July 10, 2014 /PRNewswire/ ... the Russian Federation Dmitry Medvedev , presented ... a biopharmaceutical company BIOCAD . The Company is ... the scope of MabNext project BIOCAD develops a number ... of cancer and autoimmune diseases. The ceremony took place ...
Breaking Biology Technology:John P. Donoghue is Taking the Lead at the Wyss Center and is Appointed Professor at EPFL and University of Geneva 2John P. Donoghue is Taking the Lead at the Wyss Center and is Appointed Professor at EPFL and University of Geneva 3Novel Ms Techniques Speed Detection of Biopharmaceutical Product and Process Impurities, New Webinar Hosted by Xtalks 2Robert Harman, DVM Talks About What Stem Cells are in His Latest Blog Series for Vet-Stem, Inc. 2Robert Harman, DVM Talks About What Stem Cells are in His Latest Blog Series for Vet-Stem, Inc. 3Dmitry Medvedev Presented BIOCAD the First National "Industry" Award 2
... and focus on mission, CHICAGO, Feb. 25 ... Foundation as its expected provider of,clinical services for ... research center to be built in the DuPage ... The announcement came as Northern Illinois University ...
... Inc.,(Nasdaq: SUPG ), a pharmaceutical company dedicated ... for solid tumors and,hematological malignancies, today announced that ... year-end financial results on Monday, Mar. 3,2008. SuperGen ... and provide financial guidance for fiscal year-end 2008., ...
... (Nasdaq: IDIX ), a biopharmaceutical company engaged,in the ... human viral,and other infectious diseases, announced today that three ... Meeting of the European,Association for the Study of the ... - 27, 2008. Full abstracts can now be viewed ...
Cached Biology Technology:NIU Seeks OK for New Proton Cancer Treatment and Research Center 2NIU Seeks OK for New Proton Cancer Treatment and Research Center 3SuperGen to Announce 2007 Fourth Quarter and Fiscal Year-End Financial Results March 3, 2008 2Idenix Announces Data Presentations at the 43rd Annual Meeting of the European Association for the Study of the Liver (EASL) 2Idenix Announces Data Presentations at the 43rd Annual Meeting of the European Association for the Study of the Liver (EASL) 3
... CTI Molecular Imaging's proprietary Focus™ detector ... and a large imaging volume that ... image multiple mice or large primateswithout ... dedicated small animal PET (Positron Emission ...
...
These 18x18 square No.1 Corning cover glasses are made from No. 0211 zinc titania glass and are 0.16 to 0.19mm thick....
...
Biology Products: