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: email@example.com
Michael Torres | EurekAlert!
More genes are active in high-performance maize
19.01.2018 | Rheinische Friedrich-Wilhelms-Universität Bonn
How plants see light
19.01.2018 | Albert-Ludwigs-Universität Freiburg im Breisgau
On the way to an intelligent laboratory, physicists from Innsbruck and Vienna present an artificial agent that autonomously designs quantum experiments. In initial experiments, the system has independently (re)discovered experimental techniques that are nowadays standard in modern quantum optical laboratories. This shows how machines could play a more creative role in research in the future.
We carry smartphones in our pockets, the streets are dotted with semi-autonomous cars, but in the research laboratory experiments are still being designed by...
What enables electrons to be transferred swiftly, for example during photosynthesis? An interdisciplinary team of researchers has worked out the details of how...
For the first time, scientists have precisely measured the effective electrical charge of a single molecule in solution. This fundamental insight of an SNSF Professor could also pave the way for future medical diagnostics.
Electrical charge is one of the key properties that allows molecules to interact. Life itself depends on this phenomenon: many biological processes involve...
At the JEC World Composite Show in Paris in March 2018, the Fraunhofer Institute for Laser Technology ILT will be focusing on the latest trends and innovations in laser machining of composites. Among other things, researchers at the booth shared with the Aachen Center for Integrative Lightweight Production (AZL) will demonstrate how lasers can be used for joining, structuring, cutting and drilling composite materials.
No other industry has attracted as much public attention to composite materials as the automotive industry, which along with the aerospace industry is a driver...
Scientists at Tokyo Institute of Technology (Tokyo Tech) and Tohoku University have developed high-quality GFO epitaxial films and systematically investigated their ferroelectric and ferromagnetic properties. They also demonstrated the room-temperature magnetocapacitance effects of these GFO thin films.
Multiferroic materials show magnetically driven ferroelectricity. They are attracting increasing attention because of their fascinating properties such as...
08.01.2018 | Event News
11.12.2017 | Event News
08.12.2017 | Event News
19.01.2018 | Materials Sciences
19.01.2018 | Health and Medicine
19.01.2018 | Physics and Astronomy