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 its target area within the nucleus of a cell. As a result, it was unable to perform its normal role in cell division and/or RNA methylation.

Collaborators from the Wellcome Trust Centre for Stem Cell Research in Cambridge, U.K., showed which type of brain cells were likely to be most affected by this mutation. They are called Purkinje cells, a type of neuron that responds to the neurotransmitter GABA. Purkinje cells also control motor coordination, which were affected in the Pakistani family.

"We speculate that the muscle effects may result from the accumulation of the NSUN2 protein outside its target area in the nucleus," says Dr. Vincent.

To date, Dr. Vincent's lab has identified five genes causing different forms of recessive intellectual disability.


'/>"/>
Contact: Michael Torres
media@camh.net
416-595-6015
Centre for Addiction and Mental Health
Source:Eurekalert

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:11/15/2016)... , Nov 15, 2016 Research and ... Global Forecast to 2021" report to their offering. ... ... USD 16.18 Billion by 2021 from USD 6.21 Billion in 2016, ... Growth of the bioinformatics market is driven by the ...
(Date:6/22/2016)... 2016   Acuant , the leading ... has partnered with RightCrowd ® to ... Management, Self-Service Kiosks and Continuous Workforce Assurance. ... functional enhancements to existing physical access control ... with an automated ID verification and authentication ...
(Date:6/15/2016)... York , June 15, 2016 ... new market report titled "Gesture Recognition Market by Application ... Forecast, 2016 - 2024". According to the report, the  ... 11.60 billion in 2015 and is estimated to ... USD 48.56 billion by 2024.  Increasing ...
Breaking Biology News(10 mins):
(Date:12/5/2016)...  Renova™ Therapeutics, a biotechnology company developing gene ... chronic diseases, announced that Catherine Bovenizer , ... Officer (CFO), effective today. Ms. Bovenizer ... in financial management for a variety of public ... recently, Ms. Bovenizer was the Vice President of ...
(Date:12/5/2016)... , Dec 5, 2016 Research and ... "DNA Sequencing - Technologies, Markets and Companies" to ... , ... briefly reviews basics of human genome variations, development of sequencing ... described as well as companies developing them. Various applications of ...
(Date:12/4/2016)... , Dec. 3, 2016  In five studies ... Hematology (ASH) Annual Meeting and Exposition in ... engineering methods to improve the delivery of life-saving treatments ... new methods are designed to carry therapies directly to ... most, which could provide a substantial advantage over traditional, ...
(Date:12/2/2016)... -- The Multiple Myeloma Research Foundation (MMRF) today announced that ... —the largest and most comprehensive study driving new genomic ... presented at the 58 th American Society of ... San Diego from December 3-6. The new ... as identify pathways and targets for new drug development. ...
Breaking Biology Technology: