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:8/31/2014)... have discovered that ,good, cholesterol is turned ,bad, by ... MG, was found to damage ,good, HDL cholesterol, which ... , Low levels of HDL, High Density Lipoprotein, ... of MG being common in the elderly and those ... funding from the British Heart Foundation (BHF) and published ...
(Date:8/31/2014)... of satellite data from the last 19 years reveals that ... the coast of Antarctica to rise by 2cm more than ... of Southampton detected the rapid rise in sea-level by studying ... million square kilometres. , The melting of the ... has contributed an excess of around 350 gigatonnes of freshwater ...
(Date:8/29/2014)... SAN ANTONIO (Aug. 29, 2014) Scientists at the ... the School of Medicine at the UT Health Science ... longevity in the tissues of the longest-lived rodent, the ... factor in the cells of naked mole rats protects ... disposer for damaged and obsolete proteins. , The factor ...
Breaking Biology News(10 mins):Sugar substance 'kills' good HDL cholesterol, new research finds 2Factor in naked mole rat's cells enhances protein integrity 2
... lining , The intestines have to work properly if we ... must be secreted, the food broken down into smaller components ... muscles and organs. The lining of the gut is coated ... hormones while keeping dangerous bacteria and toxins at bay. Close ...
... August 30, 2010 The Metcalf Institute ... of Rhode Island Graduate School of Oceanography has ... RAPID Response grant through the Foundation,s office of ... Improving Communication of Oil Spill Research, will support ...
... 30th, 2010 Undergrads often take communication courses unrelated ... Department of Horticulture teamed up with the Library and ... students to research and understand literature searchers and incorporate ... Jeanine E. Aune, and Gail R. Nonnecke, Iowa State ...
Cached Biology News:Researchers to activate anti-cancer gene 2Metcalf Institute wins NSF grant to help journalism and communication of oil spill research 2Teaching communication and information literacy skills 2
(Date:8/29/2014)... NY (PRWEB) August 29, 2014 Local ... Hills Veterinary Hospital are seeking candidates to participate in ... with osteoarthritis. The ultimate goal of this study ... stem cells into one or two arthritically affected joints ... joints. , Candidates for the current investigational study ...
(Date:8/29/2014)... A major challenge before new biotechnology start-up companies, ... Boston-Cambridge, is gaining visibility that can lead to important ... of Boston’s Adult Stem Cell Technology Center, LLC (ASCTC), ... his company an important priority since he started the ... social media marketing campaign launched earlier in ...
(Date:8/28/2014)... 2014 Best Sanitizers, Inc., a leader ... processing industry, is asking industry professionals to prepare for ... the E2 soap they’re currently using to the Best ... Hand hygiene is critical to fighting cross-contamination and ... Six key criteria are identified to evaluate the effectiveness ...
(Date:8/28/2014)... WEST LAFAYETTE, Ind. A new research ... "nanomechanical" properties of tiny structures undergoing stress ... insights to improve designs for microelectronics and ... spectroscopy, reveals information about how heating and ... their mechanical properties. Researchers have discussed the ...
Breaking Biology Technology:Burnt Hills Veterinary Hospital Seeks Candidates for an Investigational Study of Stem Cells for Dogs with Arthritis 2The Adult Stem Cell Technology Center, LLC Participates in Multiple Stem Cell and Regenerative Medicine Conferences Before Year End 2The Adult Stem Cell Technology Center, LLC Participates in Multiple Stem Cell and Regenerative Medicine Conferences Before Year End 3The Adult Stem Cell Technology Center, LLC Participates in Multiple Stem Cell and Regenerative Medicine Conferences Before Year End 4Best Sanitizers, Inc. Asks Food Industry Professionals: With Fall Harvest On the Way, Is Your E2 Hand Soap Up to the Task? 2New analytical technology reveals 'nanomechanical' surface traits 2New analytical technology reveals 'nanomechanical' surface traits 3
... Top 25 Global Pharmaceutical Companies Select Drug ... Visualization, MOUNTAIN VIEW, Calif., April 2, 2008 ... provider of software,strategic consulting, and regulatory services for ... 25 global pharmaceutical,companies have become customers for its ...
... 1, 2008 MiMedx Group, Inc.,(OTC Bulletin Board: ... AYXC), today reported that the contemplated reverse stock ... related name change, to,MiMedx Group, Inc., was approved ... a result of the reverse split and redomestication, ...
... Installation and Major Data Migration in ... United States and Abroad, CHICAGO, April 1, ... signed an agreement with the Cleveland,Clinic, a not-for-profit ... deploy the syngo(R) Dynamics cardiology image,management and reporting ...
Cached Biology Technology:Pharsight Signs Two New DMX(R) License Customers 2Pharsight Signs Two New DMX(R) License Customers 3MiMedx Group Announces Post-split Name Change 2MiMedx Group Announces Post-split Name Change 3Siemens Signs Multi-Year Agreement With Cleveland Clinic to Deploy Enterprise-Wide Cardiology PACS 2
Rabbit polyclonal to Somatostatin 28 ( Abpromise for all tested applications). entrezGeneID: 6750 SwissProtID: P61278...
... Features Convenient platform for tube ... - 96 x 0.2ml V-bottom tubes ... Thermo-Tube Plates - Thermo-Fast® 96 Non-Skirted ... - 48 x 0.5ml Thermo-Tubes Multiple ...
... Pro upgrade for Shimadzu Phoretix 2D, Expression ... statistical tools for comparative gel analysis studies ... Data base add on component ... version 9i release 2 client software). ...
... systems provide linking and labelling reagents ... specific primary antibodies for visualising cellular ... accomplished using an ultra-sensitive indirect labelling ... technology. Secondary antibodies are polymerised directly ...
Biology Products: