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 October 31, 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 October 31, 2014).

Share This



More Health & Medicine News

Friday, October 31, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Melafind: Spotting Melanoma Without a Biopsy

Melafind: Spotting Melanoma Without a Biopsy

Ivanhoe (Oct. 31, 2014) The MelaFind device is a pain-free way to check suspicious moles for melanoma, without the need for a biopsy. Video provided by Ivanhoe
Powered by NewsLook.com
Battling Multiple Myeloma

Battling Multiple Myeloma

Ivanhoe (Oct. 31, 2014) The answer isn’t always found in new drugs – repurposing an ‘old’ drug that could mean better multiple myeloma treatment, and hope. Video provided by Ivanhoe
Powered by NewsLook.com
Chronic Inflammation and Prostate Cancer

Chronic Inflammation and Prostate Cancer

Ivanhoe (Oct. 31, 2014) New information that is linking chronic inflammation in the prostate and prostate cancer, which may help doctors and patients prevent cancer in the future. Video provided by Ivanhoe
Powered by NewsLook.com
Sickle Cell: Stopping Kids’ Silent Strokes

Sickle Cell: Stopping Kids’ Silent Strokes

Ivanhoe (Oct. 31, 2014) Blood transfusions are proving crucial to young sickle cell patients by helping prevent strokes, even when there is no outward sign of brain injury. Video provided by Ivanhoe
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