Featured Research

from universities, journals, and other organizations

Epilepsy Genes May Cancel Each Other

Date:
November 5, 2007
Source:
Baylor College of Medicine
Summary:
Inheriting two genetic mutations that can individually cause epilepsy might actually be 'seizure-protective,' said researchers. "In the genetics of the brain, two wrongs can make a right," said one of the scientists "We believe these findings have great significance to clinicians as we move toward relying upon genes to predict neurological disease."

Inheriting two genetic mutations that can individually cause epilepsy might actually be "seizure-protective," said Baylor College of Medicine researchers in a report that appears in the journal Nature Neuroscience.

"In the genetics of the brain, two wrongs can make a right," said Dr. Jeffrey L. Noebels, professor of neurology, neuroscience and molecular and human genetics at BCM. "We believe these findings have great significance to clinicians as we move toward relying upon genes to predict neurological disease."

In addition, the finding might point the way to new ways of treating epilepsy using gene-directed therapy.

"If you have a potassium channel defect, then a drug blocking certain calcium channels might also benefit you," said Noebels.

Noebels and his colleagues, who included first author Dr. Ed Glasscock, a post-doctoral researcher at BCM, tested this hypothesis by breeding mice with two defective genes that govern ion channels, tiny pores in cells that allow molecules such as potassium and calcium to flow in and out.

The genes were known to cause epilepsy when inherited singly within families. They have also been found in a large-scale screen of people with non-familial seizure disorders being performed in collaboration with the Baylor Human Genome Sequencing Center.

One is a mutation in the Kcna1 gene involved in the channel that allows potassium to flow in and out of the cell. It causes severe seizures affecting the brain's temporal lobe, an area of the brain involved in processing sight, sound, speech and forming memories. It can also cause sudden death in young mice.

The other mutation is in a calcium channel gene (Cacna1a) that causes a specific type of seizure associated with absence epilepsy. When people suffer these seizures, they may appear to be staring into space and do not exhibit the jerking or movements generally associated with epilepsy.

When both types of mutation occurred in the same young mouse, that animal had dramatically reduced seizures and did not suffer the sudden death associated with the potassium channel problem.

Noebels, who is also director of the Developmental Neurogenetics Laboratory funded by the National Institutes of Health and Blue Bird Circle Foundation, said, "Rather than screening for 'bad' genes one at a time, it may be essential to create a complete profile of many or even all genes in order to accurately assess the true genetic risk of any single defect in many common disorders such as epilepsy. Fortunately, this amount of background information will soon become routinely obtainable in individual patients thanks to rapid technological progress in the field of neurogenomics."

Many different genes can lead to seizure disorders. In some cases, they encode ion channels that adjust the way neurons fire. Previous work indicated that combinations of such genes could make epilepsy worse. However, certain combinations may actually prevent the abnormal patterns of epilepsy, acting as "circuit breakers," said Noebels.


Story Source:

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


Cite This Page:

Baylor College of Medicine. "Epilepsy Genes May Cancel Each Other." ScienceDaily. ScienceDaily, 5 November 2007. <www.sciencedaily.com/releases/2007/11/071104191543.htm>.
Baylor College of Medicine. (2007, November 5). Epilepsy Genes May Cancel Each Other. ScienceDaily. Retrieved September 3, 2014 from www.sciencedaily.com/releases/2007/11/071104191543.htm
Baylor College of Medicine. "Epilepsy Genes May Cancel Each Other." ScienceDaily. www.sciencedaily.com/releases/2007/11/071104191543.htm (accessed September 3, 2014).

Share This



More Health & Medicine News

Wednesday, September 3, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Snack Attack: Study Says Action Movies Make You Snack More

Snack Attack: Study Says Action Movies Make You Snack More

Newsy (Sep. 2, 2014) You're more likely to gain weight while watching action flicks than you are watching other types of programming, says a new study published in JAMA. Video provided by Newsy
Powered by NewsLook.com
U.N. Says Ebola Travel Restrictions Will Cause Food Shortage

U.N. Says Ebola Travel Restrictions Will Cause Food Shortage

Newsy (Sep. 2, 2014) The U.N. says the problem is two-fold — quarantine zones and travel restrictions are limiting the movement of both people and food. Video provided by Newsy
Powered by NewsLook.com
Doctors Fear They're Losing Battle Against Ebola

Doctors Fear They're Losing Battle Against Ebola

AP (Sep. 2, 2014) As a third American missionary is confirmed to have contracted Ebola in Liberia, doctors on the ground in West Africa fear they're losing the battle against the outbreak. (Sept. 2) Video provided by AP
Powered by NewsLook.com
Tech Giants Bet on 3D Headsets for Gaming, Healthcare

Tech Giants Bet on 3D Headsets for Gaming, Healthcare

AFP (Sep. 2, 2014) When Facebook acquired the virtual reality hardware developer Oculus VR in March for $2 billion, CEO Mark Zuckerberg hailed the firm's technology as "a new communication platform." Duration: 02:24 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:
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