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:7/28/2014)... discovery of two additional coral communities showing signs of damage ... of the 2010 spill in the Gulf of Mexico. The ... professor of biology at Penn State University. A paper describing ... in the Gulf of Mexico will be published during the ... of the journal Proceedings of the National Academy of ...
(Date:7/28/2014)... TEMPE, Ariz. - Reactions among minerals and organic compounds ... deep carbon cycle, they provide energy for the deep ... life. However, very little is known about how minerals ... Arizona State University have demonstrated how a common mineral ... negating the need for toxic solvents or expensive ...
(Date:7/28/2014)... pennellii , a wild relative of the domestic tomato, ... including the labs headed by Professors Neelima Sinha and ... Biology. The new genome information may help breeders produce ... 27 in the journal Nature Genetics , was ... in Germany. The UC Davis labs carried out work ...
Breaking Biology News(10 mins):Impact of Deepwater Horizon oil spill on coral is deeper and broader than predicted 2Mineral magic? Common mineral capable of making and breaking bonds 2Mineral magic? Common mineral capable of making and breaking bonds 3
... the capacity for echolocation, although it does take time and ... hear more than one might think. The blind learn to ... make. This enables them to sense the locations of walls ... stick or making clicking sounds with the tongue, and analyzing ...
... 29, 2013 -- Medication poisonings among children are an ... of 1500 children under 6 years of age was ... exposure to buprenorphine. Ingestion of strong opioids, such ... depression, and death in young children. In a ...
... millimeters-long when they hatch, but can smell the presence of ... to navigate home. The results are reported August 28 in ... Paris from the University of Miami and colleagues from other ... arena to find that larvae of two families, damselfish and ...
Cached Biology News:Echolocation 2'1 pill can kill': Effects of unintentional opioid exposure in young children 2
(Date:7/28/2014)... 2014 Appistry, Inc. , a ... the power of genomics to next-generation medicine, announced today ... Challenge . , Two Appistry staff will be ... Center for Genome Resources, and Mr. Neil Miller, director ... Kansas City. Rounding out the panel are Appistry’s Dr. ...
(Date:7/28/2014)... -- Research and Markets has announced the addition ... report to their offering. http://photos.prnewswire.com/prnh/20130307/600769 ... used to determine the size of a particle in a ... analyze the size of particles as it can affect the ... to determine the behavior and nature of a material, and ...
(Date:7/25/2014)... bacteria live in each person,s digestive tract. Scientists believe ... stave off harmful infections, but their role in human ... light on the role of these bacteria, a team ... recently tracked fluctuations in the bacterial populations of two ... in the July 25 issue of the journal ...
(Date:7/25/2014)... Pittsburgh, PA (PRWEB) July 25, 2014 ... annual Call for Topics for Conferee Networking. These two-hour ... similar interests to meet and resolve problems, discuss new ... , The deadline to submit a topic for consideration ... at pittcon.org . The Conferee Networking committee will ...
Breaking Biology Technology:Appistry Names Industry Experts from the National Center for Genome Resources and Mercy Children's, Kansas City, to Judge Pipeline Challenge Competition 2Global Particle Size Analysis Market 2014-2018 2Monitoring the rise and fall of the microbiome 2Monitoring the rise and fall of the microbiome 3Pittcon 2015 Announces Call for Topics for Conferee Networking Sessions 2
... 28 , - New ... , Bial-Portela & CA, S.A., ... Portela), and Eisai Europe Limited (London; Chairman & CEO ... President &,CEO: Haruo Naito), today announced that the novel ...
... scientists have unlocked the physics of the perfect pizza ... generation of micro motors thinner that a human hair. ... by Associate Professor James Friend and Senior Lecturer Leslie ... team from Monash,s Micro/Nanophysics Research Laboratory, then calculated how ...
... -- Encorium Group, Inc. (Nasdaq: ... (CRO) that provides design, development, and management capabilities ... of the world,s leading pharmaceutical companies, today announced ... Annual Vaccine Industry Excellence Award for Best Contract ...
Cached Biology Technology:Novel Once Daily Anti-Epileptic Zebinix(R) Approved in the European Union 2Novel Once Daily Anti-Epileptic Zebinix(R) Approved in the European Union 3Novel Once Daily Anti-Epileptic Zebinix(R) Approved in the European Union 4Novel Once Daily Anti-Epileptic Zebinix(R) Approved in the European Union 5Novel Once Daily Anti-Epileptic Zebinix(R) Approved in the European Union 6Novel Once Daily Anti-Epileptic Zebinix(R) Approved in the European Union 7Novel Once Daily Anti-Epileptic Zebinix(R) Approved in the European Union 8Novel Once Daily Anti-Epileptic Zebinix(R) Approved in the European Union 9Pizza tossing art unlocks secrets of tiny motors 2Encorium Named as Finalist for the Second Annual Vaccine Industry Excellence Award 2Encorium Named as Finalist for the Second Annual Vaccine Industry Excellence Award 3Encorium Named as Finalist for the Second Annual Vaccine Industry Excellence Award 4
... Optimal Microdissection , CapSure HS and CapSure ... rapid extraction of populations of pure cells ... Laser Capture Microdissection., Ensure the Integrity ... , All CapSure LCM Caps have a ...
... The Chromo4 real-time PCR detector is ... interchangeably on a DNA Engine or Dyad ... system includes a compact scanning photonics shuttle ... (450-490 nm, 500-535 nm, 555-585 nm, 620-650 ...
... Laser Capture Microdissection (LCM) is the method ... Veritas Microdissection is the only instrument to ... unmatched flexibility., UV Laser Cutting ... for non-soft tissues and capturing large numbers ...
... VersArray ChipReader systems are highly sensitive laser ... microarrays. These are advanced scanners that meet ... and background level, and optimizing the signal ... top end of the range for increased ...
Biology Products: