Navigation Links
New form of intellectual disability discovered

(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
Centre for Addiction and Mental Health

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:
(Date:5/16/2017)... , May 16, 2017  Veratad Technologies, LLC ( ... online age and identity verification solutions, announced today they ... Conference 2017, May 15 thru May 17, 2017, in ... and International Trade Center. Identity impacts ... and in today,s quickly evolving digital world, defining identity ...
(Date:4/18/2017)... 2017  Socionext Inc., a global expert in SoC-based imaging and ... the M820, which features the company,s hybrid codec technology. A demonstration ... Probe, Inc., will be showcased during the upcoming Medtec Japan at ... the Las Vegas Convention Center April 24-27. ... Click here for an ...
(Date:4/11/2017)... DUBLIN , Apr. 11, 2017 Research ... Tracking Market 2017-2021" report to their offering. ... The global eye tracking market to grow at ... The report, Global Eye Tracking Market 2017-2021, has been prepared based ... report covers the market landscape and its growth prospects over the ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... ... October 11, 2017 , ... ComplianceOnline’s Medical Device Summit is back ... 8th June 2018 in San Francisco, CA. The Summit brings together current and former ... CEOs, board directors and government officials from around the world to address key issues ...
(Date:10/11/2017)... , ... October 11, 2017 , ... Disappearing forests and ... lives of over 5.5 million people each year. Especially those living in larger cities ... Treepex - based in one of the most pollution-affected countries globally - decided to ...
(Date:10/10/2017)... , ... October 10, 2017 ... ... cancer-focused pharmaceutical company advancing targeted antibody-drug conjugate (ADC) therapeutics, today confirmed licensing ... HPLN (Hybrid Polymerized Liposomal Nanoparticle), a technology developed in collaboration with Children’s ...
(Date:10/10/2017)... , Oct. 10, 2017 SomaGenics announced the ... NIH to develop RealSeq®-SC (Single Cell), expected to be ... small RNAs (including microRNAs) from single cells using NGS ... the need to accelerate development of approaches to analyze ... "New techniques for measuring levels of mRNAs ...
Breaking Biology Technology: