Featured Research

from universities, journals, and other organizations

Researchers Identify Gene Involved In Both Intellectual Disability And Epilepsy

Date:
March 11, 2002
Source:
Women's And Children's Hospital, Adelaide
Summary:
Intellectual disability and epilepsy often occur together and frequently have genetic causes. Now, for the first time, researchers from the Women’s and Children’s Hospital, Adelaide have identified a major gene that is responsible for both conditions.

Intellectual disability and epilepsy often occur together and frequently have genetic causes. Now, for the first time, researchers from the Women’s and Children’s Hospital, Adelaide have identified a major gene that is responsible for both conditions.

Related Articles


Senior hospital scientist Dr Jozef Gecz from the Dept of Cytogenetics and Molecular Genetics says, “ This gene is found on the X-chromosome and is one of probably 100 genes on that chromosome, which when mutated, can cause intellectual disability.

“The really novel aspect to this gene is its involvement in epilepsy as well as in intellectual disability.

Previously nine other epilepsy-causing genes have been identified and these belong predominantly to a specific group called ‘ion channels’ and they have nothing to do with intellectual disability.

“Our new gene is different, being more of a master gene, controlling how, where and when other genes work and thus contributing to the normal cognitive function of human brain.

“It will be very interesting to know the identity of these genes, that are under control of this master gene as they may potentially be involved in either epilepsy, intellectual disability, or both,“ says Dr Gecz, who led the team of 17 researchers from six countries collaborating on this project.

Dr Gecz and his team are puzzled by their finding that the same mutation in this gene can give rise to very different clinical outcomes.

“We studied genetic material from nine families worldwide and found the same mutations in the gene gave rise to epilepsy including infantile seizures (early childhood epilepsy) and other types of seizures, dystonia (disorder of muscle tone causing muscle contraction) as well as intellectual disability. We have no answers for why this occurs, but it is something we are keen to study further”.

The research involved a worldwide collaboration with genetic material being obtained from families in Norway, Canada, Belgium, and Australia (Adelaide, Melbourne and Newcastle). However, isolation and identification of the gene was carried out in Adelaide, South Australia at the Women’s and Children’s Hospital.

“Our findings of mutations in this gene in the set of nine families with various clinical presentations including West syndrome, Partington syndrome, myoclonic epilepsy, syndromic and non-specific intellectual disability is quite unexpected, " Dr Gecz says.

The identification of this gene may have its biggest impact on families and isolated cases with ‘non-specific’ intellectual disability, which until now could only be diagnosed by delayed development and intellectual impairment. However, this still needs to be substantiated by further experiments.

Dr Gecz says the immediate benefit of this discovery is that we can now provide feedback to the affected families and thus assist them in making informed reproductive decisions.

It is estimated that up to 2% of the population suffer from intellectual disability and 2% from epilepsy.


Story Source:

The above story is based on materials provided by Women's And Children's Hospital, Adelaide. Note: Materials may be edited for content and length.


Cite This Page:

Women's And Children's Hospital, Adelaide. "Researchers Identify Gene Involved In Both Intellectual Disability And Epilepsy." ScienceDaily. ScienceDaily, 11 March 2002. <www.sciencedaily.com/releases/2002/03/020311075455.htm>.
Women's And Children's Hospital, Adelaide. (2002, March 11). Researchers Identify Gene Involved In Both Intellectual Disability And Epilepsy. ScienceDaily. Retrieved November 27, 2014 from www.sciencedaily.com/releases/2002/03/020311075455.htm
Women's And Children's Hospital, Adelaide. "Researchers Identify Gene Involved In Both Intellectual Disability And Epilepsy." ScienceDaily. www.sciencedaily.com/releases/2002/03/020311075455.htm (accessed November 27, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Thursday, November 27, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Ebola Leaves Orphans Alone in Sierra Leone

Ebola Leaves Orphans Alone in Sierra Leone

AFP (Nov. 27, 2014) — The Ebola epidemic sweeping Sierra Leone is having a profound effect on the country's children, many of whom have been left without any family members to support them. Duration: 01:02 Video provided by AFP
Powered by NewsLook.com
Experimental Ebola Vaccine Shows Promise In Human Trial

Experimental Ebola Vaccine Shows Promise In Human Trial

Newsy (Nov. 27, 2014) — A recent test of a prototype Ebola vaccine generated an immune response to the disease in subjects. Video provided by Newsy
Powered by NewsLook.com
Pet Dogs to Be Used in Anti-Ageing Trial

Pet Dogs to Be Used in Anti-Ageing Trial

Reuters - Innovations Video Online (Nov. 26, 2014) — Researchers in the United States are preparing to discover whether a drug commonly used in human organ transplants can extend the lifespan and health quality of pet dogs. Video provided by Reuters
Powered by NewsLook.com
Today's Prostheses Are More Capable Than Ever

Today's Prostheses Are More Capable Than Ever

Newsy (Nov. 26, 2014) — Advances in prosthetics are making replacement body parts stronger and more lifelike than they’ve ever been. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins