Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Gene identified as cause of some forms of intellectual disability

16.12.2009
A gene involved in some forms of intellectual disability has been identified by scientists at the Centre for Addiction and Mental Health (CAMH), as published this month in The American Journal of Human Genetics. The gene is called TRAPPC9.

In the same journal two other international research teams independently confirm the findings of Dr. John B. Vincent, a scientist at CAMH, and his team. "This spotlights the intense interest that genetics is bringing to types of inherited intellectual disability that, to date, have been poorly understood," says Dr. Vincent.

"Now that we have identified TRAPPC9 as a gene that may be associated with hundreds of thousands of cases of intellectual disability world-wide, we can build on that knowledge with research to help individuals and their families," says Dr. Vincent.

May account for many cases of intellectual disability

Unlike intellectual disabilities that are part of a syndrome with other medical conditions or physical abnormalities, TRAPPC9 is associated with non-syndromic types of intellectual disability; these cause up to 50 per cent of intellectual disability worldwide. "The discovery announced today sheds light on a gene for intellectual disability on one of the non-sex chromosomes," says Dr. Vincent, "just the seventh such gene that we know of." The mutation in the TRAPPC9 gene identified by Dr. Vincent's team causes the production of a truncated version of a protein and results in faulty cell function.

Findings in two families

Because there are no highly recognizable physical differences that are associated with the non-syndromic intellectual disabilities, it is more difficult to tease out the genetic mutations that may cause them. But researchers and families themselves have long suspected an inherited factor, based on patterns observed in extended families. Families with many affected individuals, and particular families from cultures where cousin-cousin marriages are common, have become invaluable in the search for such genes, and with recent advances in technology it is now possible to map disease-causing genes in a single family.

Dr. Vincent's team first identified and mapped out the TRAPPC9 gene in a large family from Pakistan that had at least seven members with non-syndromic intellectual disability. "To date, most such genes have only been found responsible for disease in a single family," he adds.

But Dr. Vincent's team also found a mutation in the same gene in a family from Iran, confirming the gene's importance. "This additional finding gives us a very strong reason to continue to explore the gene and its possible mutations," he says.

Normal brain function

Future research may include studying how the gene is involved in normal brain function, as well as studying genes with similar functions as candidate genes for intellectual disability, and devising potential therapeutic strategies. Dr. Vincent's team aims to provide scientists more clues to understand, diagnose, prevent, and treat intellectual disabilities.

Intellectual disabilities, also known as developmental delay or mental retardation, are a group of disorders defined by diminished cognitive and adaptive development. Affecting more males than females, they are diagnosed in between one and three percent of the population.

The study, Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-Beta-Binding Protein in Nonsyndromic Autosomal-Recessive Mental Retardation, was funded by grants from the Ontario Ministry of Health and Long-Term Care and (US) NARSAD. For more, see: http://www.cell.com/AJHG/

The Centre for Addiction and Mental Health (CAMH) is Canada's largest mental health and addiction teaching hospital, as well as one of the world's leading research centres in the area of addiction and mental health. CAMH combines clinical care, research, education, policy development and health promotion to transform the lives of people affected by mental health and addiction issues.

CAMH is fully affiliated with the University of Toronto, and is a Pan American Health Organization/World Health Organization Collaborating Centre.

For further information: For media interview contact: Michael Torres at (416) 595-6015 or email: media@camh.net

Michael Torres | EurekAlert!
Further information:
http://www.camh.net

More articles from Life Sciences:

nachricht The birth of a new protein
20.10.2017 | University of Arizona

nachricht Building New Moss Factories
20.10.2017 | Albert-Ludwigs-Universität Freiburg im Breisgau

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Neutron star merger directly observed for the first time

University of Maryland researchers contribute to historic detection of gravitational waves and light created by event

On August 17, 2017, at 12:41:04 UTC, scientists made the first direct observation of a merger between two neutron stars--the dense, collapsed cores that remain...

Im Focus: Breaking: the first light from two neutron stars merging

Seven new papers describe the first-ever detection of light from a gravitational wave source. The event, caused by two neutron stars colliding and merging together, was dubbed GW170817 because it sent ripples through space-time that reached Earth on 2017 August 17. Around the world, hundreds of excited astronomers mobilized quickly and were able to observe the event using numerous telescopes, providing a wealth of new data.

Previous detections of gravitational waves have all involved the merger of two black holes, a feat that won the 2017 Nobel Prize in Physics earlier this month....

Im Focus: Smart sensors for efficient processes

Material defects in end products can quickly result in failures in many areas of industry, and have a massive impact on the safe use of their products. This is why, in the field of quality assurance, intelligent, nondestructive sensor systems play a key role. They allow testing components and parts in a rapid and cost-efficient manner without destroying the actual product or changing its surface. Experts from the Fraunhofer IZFP in Saarbrücken will be presenting two exhibits at the Blechexpo in Stuttgart from 7–10 November 2017 that allow fast, reliable, and automated characterization of materials and detection of defects (Hall 5, Booth 5306).

When quality testing uses time-consuming destructive test methods, it can result in enormous costs due to damaging or destroying the products. And given that...

Im Focus: Cold molecules on collision course

Using a new cooling technique MPQ scientists succeed at observing collisions in a dense beam of cold and slow dipolar molecules.

How do chemical reactions proceed at extremely low temperatures? The answer requires the investigation of molecular samples that are cold, dense, and slow at...

Im Focus: Shrinking the proton again!

Scientists from the Max Planck Institute of Quantum Optics, using high precision laser spectroscopy of atomic hydrogen, confirm the surprisingly small value of the proton radius determined from muonic hydrogen.

It was one of the breakthroughs of the year 2010: Laser spectroscopy of muonic hydrogen resulted in a value for the proton charge radius that was significantly...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

ASEAN Member States discuss the future role of renewable energy

17.10.2017 | Event News

World Health Summit 2017: International experts set the course for the future of Global Health

10.10.2017 | Event News

Climate Engineering Conference 2017 Opens in Berlin

10.10.2017 | Event News

 
Latest News

Terahertz spectroscopy goes nano

20.10.2017 | Information Technology

Strange but true: Turning a material upside down can sometimes make it softer

20.10.2017 | Materials Sciences

NRL clarifies valley polarization for electronic and optoelectronic technologies

20.10.2017 | Interdisciplinary Research

VideoLinks
B2B-VideoLinks
More VideoLinks >>>