Featured Research

from universities, journals, and other organizations

Cause of an inherited form of epilepsy discovered

Date:
June 21, 2012
Source:
McGill University
Summary:
Double-cortex syndrome primarily affects females and arises from mutations on a gene located on the X chromosome. Medical researchers have used a highly advanced microscope to discover how these mutations cause a malformation of the human brain.

Researchers at McGill University have discovered the cause of an inherited form of epilepsy. The disease, known as double-cortex syndrome, primarily affects females and arises from mutations on a gene located on the X chromosome. Drs. Susanne Bechstedt and Gary Brouhard of the Department of Biology have used a highly advanced microscope to discover how these mutations cause a malformation of the human brain.

The results of their study are published in the journal Developmental Cell.

When the brain develops in the uterus, new brain cells are born deep within the brain, near the center. These newborn brain cells then crawl out of the so-called "niche" where they were born and migrate outward to the edges of the brain. This outermost layer of the brain is known as the cerebral cortex and is the seat of all higher-level thinking and cognition.

In girls with a mutation on their X chromosome, the outward migration of brain cells unfortunately fails. Instead of making it all the way to the edges of the brain, some of the brain cells pile up on top of one another and form a secondary or "double-cortex." The activity of these abnormally placed brain cells gives rise to seizures and also, in some cases, mental retardation.

Drs. Bechstedt and Brouhard were able to purify the product of the mutated gene, a protein known as doublecortin, and to watch the protein in action under a microscope. This protein helps brain cells to build a scaffold inside themselves, much like the scaffolds at construction sites, built of "poles" called microtubules; these form a "skeleton" for the brain cells, known as the cytoskeleton. Brain cells require this internal skeleton to crawl and to migrate, much as humans need their skeletons to walk and run.

The McGill researchers discovered that, in order for doublecortin proteins to help build this scaffold, many doublecortin proteins must work together as a team. They found that disease-causing mutations cause a breakdown in this teamwork. This loss of teamwork is sufficient to prevent the brain cells from constructing a proper "skeleton."

This discovery has implications for treatments for a range of conditions, from other forms of epilepsy to spinal cord injuries. In each case, therapies are increasingly directed at triggering brain cells to extend their skeletons -- for example when re-growing a nerve ending past the site of a wound in the spinal cord. Understanding how brain cells construct their skeletons will open avenues for doctors to target the brain cell skeleton to extend and re-grow when needed.

This research was funded by the Canadian Institutes of Health Research.


Story Source:

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


Journal Reference:

  1. Susanne Bechstedt, GaryJ. Brouhard. Doublecortin Recognizes the 13-Protofilament Microtubule Cooperatively and Tracks Microtubule Ends. Developmental Cell, 2012; DOI: 10.1016/j.devcel.2012.05.006

Cite This Page:

McGill University. "Cause of an inherited form of epilepsy discovered." ScienceDaily. ScienceDaily, 21 June 2012. <www.sciencedaily.com/releases/2012/06/120621124944.htm>.
McGill University. (2012, June 21). Cause of an inherited form of epilepsy discovered. ScienceDaily. Retrieved October 20, 2014 from www.sciencedaily.com/releases/2012/06/120621124944.htm
McGill University. "Cause of an inherited form of epilepsy discovered." ScienceDaily. www.sciencedaily.com/releases/2012/06/120621124944.htm (accessed October 20, 2014).

Share This



More Health & Medicine News

Monday, October 20, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Microneedle Patch Promises Painless Pricks

Microneedle Patch Promises Painless Pricks

Reuters - Innovations Video Online (Oct. 18, 2014) Researchers at The National University of Singapore have invented a new microneedle patch that could offer a faster and less painful delivery of drugs such as insulin and painkillers. Video provided by Reuters
Powered by NewsLook.com
Raw: Nurse Nina Pham Arrives in Maryland

Raw: Nurse Nina Pham Arrives in Maryland

AP (Oct. 17, 2014) The first nurse to be diagnosed with Ebola at a Dallas hospital walked down the stairs of an executive jet into an ambulance at an airport in Frederick, Maryland, on Thursday. Pham will be treated at the National Institutes of Health. (Oct. 16) Video provided by AP
Powered by NewsLook.com
Raw: Cruise Ship Returns to US Over Ebola Fears

Raw: Cruise Ship Returns to US Over Ebola Fears

AP (Oct. 17, 2014) A Caribbean cruise ship carrying a Dallas health care worker who is being monitored for signs of the Ebola virus is heading back to Texas, US, after being refused permission to dock in Cozumel, Mexico. (Oct. 17) Video provided by AP
Powered by NewsLook.com
Spanish Govt: Four Suspected Ebola Cases in Spain Test Negative

Spanish Govt: Four Suspected Ebola Cases in Spain Test Negative

AFP (Oct. 17, 2014) All four suspected Ebola cases admitted to hospitals in Spain on Thursday have tested negative for the deadly virus in a first round of tests, the government said Friday. Duration: 00:55 Video provided by AFP
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