Navigation Links
CAMH researcher discovers new gene that causes intellectual disability

May 13, 2010 (Toronto) A new study involving Canada's Centre for Addiction and Mental Health (CAMH) has found a gene connected with a type of intellectual disability called Joubert syndrome.

CAMH Senior Scientist Dr. John Vincent has identified this gene that, when defective, leads to Joubert syndrome. This research is published in the 13 May 2011 issue of Cell.

This international study combined Dr. Vincent's gene mapping of a family with Joubert syndrome, with the use of a protein network map established by researchers at Genentech Inc., Stanford University and the University of California at San Francisco (UCSF). Together this approach identified two genes associated with the group of disorders called ciliopathies.

Joubert syndrome, which is a ciliopathy, affects brain functioning, resulting in intellectual deficits, movement and coordination problems and other symptoms such as kidney and eye problems. This syndrome is reported to affect approximately 1 in 100,000 children, although this is likely to be a significant underestimate of the true prevalence.

Ciliopathies are caused by genetic defects to a part of the cell called the cilium. The cilium is crucial as it is involved with cell signaling pathways during cell development in different parts of the body. The other ciliopathy gene identified in this study leads to a condition called nephronopthisis, which is also associated with kidney and eye problems.

"A defect in any aspect of this molecular pathway may have very similar effects at the clinical level," says Dr. Vincent, who is also head of the Centre for Addiction and Mental Health's Molecular Neuropsychiatry and Development Laboratory.

Dr. Vincent's team found defects in the TCTN2 gene occurring in a family in Pakistan, in which four siblings had Joubert syndrome. The syndrome occurs when a child inherits a defective copy of the gene from each parent.

The researchers based in California led the mapping of a network of potential proteins related to ciliopathies that interact on common pathways, as an approach to identify the disease genes.

The study was a collaboration of researchers from six countries and more than a dozen centres. The lead authors were Peter Jackson and Liyun Sang at Genentech and Jeremy Reiter at UCSF. Other collaborators included Friedhelm Hildebrandt at the University of Michigan at Ann Arbor, Dan Doherty at the University of Washington in Seattle, Muhammad Ansar of Quaid-e-Azam University in Islamabad, and Julie Miller at Stanford University.

Dr. Vincent previously discovered the CC2D2A gene, which is also associated with Joubert syndrome. Defects on this gene account for about 9 percent of cases of Joubert syndrome. To date, 10 genes have been connected with Joubert syndrome.


Contact: Michael Torres
Centre for Addiction and Mental Health

Related biology news :

1. UT Southwestern researchers find protein that might be key to cutting cancer cells blood supply
2. Striking the right balance: JBEI researchers counteract biofuel toxicity in microbes
3. Yale researchers explain why cancer smart drugs may not be so smart
4. Reforesting rural lands in China pays big dividends, Stanford researchers say
5. Chemistry researchers receive patent for new scientific measurement instrument
6. USDA researchers, collaborators sequence genomes of fungi that threaten wheat, poplars
7. Parsley, celery carry crucial component for fight against breast cancer, MU researcher finds
8. Researchers get new view of how water and sulfur dioxide mix
9. OGI genomics researchers awarded $23 million
10. Columbia researchers find green roof is a cost-effective way to keep water out of sewers
11. Einstein researchers find key gene in childhood cancer
Post Your Comments:
(Date:10/29/2015)... 29, 2015  Connected health pioneer, Joseph C. ... of technology-enabled health and wellness, and the business opportunities ... The Internet of Healthy Things . Long ... even existed, Dr. Kvedar, vice president, Connected Health, Partners ... delivery, moving care from the hospital or doctor,s office ...
(Date:10/29/2015)... NEW YORK , Oct. 29, 2015 /PRNewswire/ ... wearable technology, announced a partnership with 2XU, a ... accessories, to deliver a smart hat with advanced ... runners and other athletes to monitor key biometrics ... of the strategic partnership, the two companies will bring ...
(Date:10/27/2015)... -- Munich, Germany , October ... automatically maps data from mobile eye tracking videos created ... that they can be quantitatively analyzed with SMI,s analysis ... , October 28-29, 2015. SMI,s Automated Semantic Gaze ... tracking videos created with SMI,s Eye Tracking Glasses ...
Breaking Biology News(10 mins):
(Date:11/30/2015)... Nov. 30, 2015  Aytu BioScience, Inc. (OTCQB: AYTU), ... related conditions, will present at two upcoming investor conferences. ... interactive real-time virtual conference, to be held December 3, ... to be held December 2 nd & 3 ... and streamed live via webcast. Josh ...
(Date:11/30/2015)... Israel , Nov. 30, 2015 BrainStorm ... developer of adult stem cell technologies for neurodegenerative diseases, today ... been awarded an additional grant of approximately $735,000 from ... This grant, the second this year, brings the total awarded ... million (approximately NIS7 million).  ...
(Date:11/26/2015)... MUMBAI , November 26, 2015 ... --> Accutest Research ... accredited Contract Research Organization (CRO), has ... Chase Cancer Center - Temple Health ... ,     (Photo: ) ...
(Date:11/25/2015)... 2015 Studies reveal the differences ... and pave the way for more effective treatment for one ...   --> --> ... problems in cats, yet relatively little was understood about the ... have been conducted by researchers from the WALTHAM Centre for ...
Breaking Biology Technology: