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!
A novel socio-ecological approach helps identifying suitable wolf habitats
17.02.2017 | Universität Zürich
New, ultra-flexible probes form reliable, scar-free integration with the brain
16.02.2017 | University of Texas at Austin
In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport
Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...
The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.
The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...
Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...
Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".
Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...
13.02.2017 | Event News
10.02.2017 | Event News
09.02.2017 | Event News
17.02.2017 | Medical Engineering
17.02.2017 | Medical Engineering
17.02.2017 | Health and Medicine