Featured Research

from universities, journals, and other organizations

Mutant Gene Causes Epilepsy, Intellectual Disability In Women

Date:
May 12, 2008
Source:
University of Adelaide
Summary:
A mutated gene has been discovered as the key behind epilepsy and mental retardation specific to women. The new discovery, published in Nature Genetics, shows that although men carry the 'bad' gene, only women are affected.

A mutated gene has been discovered as the key behind epilepsy and mental retardation specific to women, thanks to new research at Adelaide's Women's & Children's Hospital and the University of Adelaide, Australia.

The world-first discovery, published in Nature Genetics, shows that although men carry the 'bad' gene, only women are affected.

The research has been led by Dr Leanne Dibbens and Associate Professor Jozef Gecz from the Department of Genetic Medicine, Women's & Children's Hospital, and the Discipline of Paediatrics at the University of Adelaide. The discovery is a result of a major international collaboration involving the Sanger Institute in Cambridge (UK), Wellcome Trust (UK) and many other collaborators in Australia, the United States, Ireland and Israel.

Their work has linked, for the first time, a large family of genes known as protocadherins with a condition known as "epilepsy and mental retardation limited to females" (EFMR).

Although a relatively uncommon disorder, the condition is hereditary, with successive generations of women affected. In just one of seven families studied across the world, 23 women were affected by the disorder across five generations. This discovery will now enable such families to benefit from genetic counselling, including screening for the genetic mutation at pregnancy.

"This is the first time this type of gene has been found to be involved in epilepsy," Dr Dibbens says.

"One of the most important discoveries we've made is that women in families affected by EFMR carry both a 'good' gene and a 'bad' (mutated) gene, while the men carry only the bad gene. For some reason, the men remain unaffected by the condition," Dr Dibbens says.

"We suspect this may have something to do with the male Y chromosome, but more research will be needed to find out exactly how or why."

Dr Dibbens says the gene involved in this discovery is important for cell-to-cell communication in the brain, and could also hold the key to better understanding related issues, such as autism and obsessive disorders.

"With 100 related proteins involved in this gene family, this study could lead to many new areas of research, with the need to understand the role and function of each protein," she says.

Clinically, the disorder EFMR was first described more than 10 years ago, but the cause of EFMR has been unknown until now. Why females rather males are affected -- as is usual for X chromosome associated disorders -- makes this a unique disorder among the epilepsies and mental retardations.

For this study, seven families were studied in Australia, the United States, Israel and Ireland. The genetic mutation was discovered in each family.

Crucial to this research was access to state-of-the-art technological support including the sequencing of 737 genes on the X chromosome, which was conducted by collaborators at the Wellcome Trust Sanger Institute in the UK.


Story Source:

The above story is based on materials provided by University of Adelaide. Note: Materials may be edited for content and length.


Cite This Page:

University of Adelaide. "Mutant Gene Causes Epilepsy, Intellectual Disability In Women." ScienceDaily. ScienceDaily, 12 May 2008. <www.sciencedaily.com/releases/2008/05/080512094451.htm>.
University of Adelaide. (2008, May 12). Mutant Gene Causes Epilepsy, Intellectual Disability In Women. ScienceDaily. Retrieved September 17, 2014 from www.sciencedaily.com/releases/2008/05/080512094451.htm
University of Adelaide. "Mutant Gene Causes Epilepsy, Intellectual Disability In Women." ScienceDaily. www.sciencedaily.com/releases/2008/05/080512094451.htm (accessed September 17, 2014).

Share This



More Health & Medicine News

Wednesday, September 17, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

President To Send 3,000 Military Personnel To Fight Ebola

President To Send 3,000 Military Personnel To Fight Ebola

Newsy (Sep. 16, 2014) President Obama is expected to send 3,000 troops to West Africa as part of the effort to contain Ebola's spread. Video provided by Newsy
Powered by NewsLook.com
Man Floats for 31 Hours in Gulf Waters

Man Floats for 31 Hours in Gulf Waters

AP (Sep. 16, 2014) A Texas man is lucky to be alive after he and three others floated for more than a day in the Gulf of Mexico when their boat sank during a fishing trip. (Sept. 16) Video provided by AP
Powered by NewsLook.com
Ivorians Abandon Monkey Pets in Fear Over Ebola Virus

Ivorians Abandon Monkey Pets in Fear Over Ebola Virus

AFP (Sep. 16, 2014) Since the arrival of Ebola in Ivory Coast, Ivorians have been abandoning their pets, particularly monkeys, in the fear that they may transmit the virus. Duration: 00:47 Video provided by AFP
Powered by NewsLook.com
Study Links Male-Pattern Baldness To Prostate Cancer

Study Links Male-Pattern Baldness To Prostate Cancer

Newsy (Sep. 16, 2014) New findings suggest men with a certain type of baldness at age 45 are 39 percent more likely to develop aggressive prostate cancer. 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:
from the past week

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