Featured Research

from universities, journals, and other organizations

Gene mutations in flies, humans produce similar epilepsy syndromes

Date:
March 27, 2014
Source:
Genetics Society of America
Summary:
New findings that build on and expand a previous discovery that mutations in the 'prickle' gene in Drosophila were responsible for much more than merely altering the bristles on the fly's body to point them in the wrong direction are now presented by researchers.

Four years ago, University of Iowa scientists discovered that mutations in the prickle gene in Drosophila were responsible for much more than merely altering the bristles on the fly's body to point them in the wrong direction.

Related Articles


Prompted by a colleague's finding that PRICKLE gene mutations were responsible for triggering a form of epilepsy in humans, John Manak, Ph.D., who led the fly research team, took a closer look at the Drosophila prickle mutants. (PRICKLE refers to the human gene, while prickle is the Drosophila form of the gene.)

Through a series of experiments, Dr. Manak found that flies with prickle mutations had seizures with jerky movements of their wings and leg muscles that closely resembled the myoclonic form of epilepsy that affects patients with mutations in the human version of the gene. During myoclonic epileptic seizures, the patients' muscles involuntarily twitch and jerk.

In a 2011 paper about the discovery, the University of Iowa scientists also reported that valproic acid, the anti-convulsive drug, which has been used to effectively treat myoclonic epilepsy patients with PRICKLE gene mutations, also helped control seizures in the mutated flies. These findings suggested that the pathway responsible for seizures in flies and humans was conserved, and that flies with prickle mutations could now be used to screen new experimental therapeutic agents for this disorder. These experiments are now underway.

The scientists have continued to investigate Drosophila flies with the mutated prickle gene. They determined that the seizure threshold, the amount of electrical stimulation required to induce a seizure, was lower in flies with the prickle mutation than in the normal (control) Drosophila flies of the same age, demonstrating that these flies exhibited a classic characteristic of seizure susceptibility. In addition, muscle recordings after experimentally induced electric shock through the nervous system revealed that spiking activity, a measure of neuronal activity, was higher in the flies with the prickle mutations than in the control flies.

Using a technique that they developed for the study, the researchers also found that ataxia (or uncoordinated gait), which occurs in patients with myoclonic epilepsy, also occurs in flies with the prickle gene mutation. The ataxia was more severe in the Drosophila with two prickle gene mutations than in flies with one prickle gene mutated, suggesting that prickle dosage plays an important role in controlling seizures.

The University of Iowa researchers' most recent studies have identified the basic cellular mechanism that goes awry in the prickle mutant flies, leading to the epilepsy-like seizures, and these data will be presented at the GSA Drosophila Research Conference.

Link to presentation abstract: http://abstracts.genetics-gsa.org/cgi-bin/dros14s/showdetail.pl?absno=14531703


Story Source:

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


Cite This Page:

Genetics Society of America. "Gene mutations in flies, humans produce similar epilepsy syndromes." ScienceDaily. ScienceDaily, 27 March 2014. <www.sciencedaily.com/releases/2014/03/140327101455.htm>.
Genetics Society of America. (2014, March 27). Gene mutations in flies, humans produce similar epilepsy syndromes. ScienceDaily. Retrieved October 24, 2014 from www.sciencedaily.com/releases/2014/03/140327101455.htm
Genetics Society of America. "Gene mutations in flies, humans produce similar epilepsy syndromes." ScienceDaily. www.sciencedaily.com/releases/2014/03/140327101455.htm (accessed October 24, 2014).

Share This



More Health & Medicine News

Friday, October 24, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Breakfast Debate: To Eat Or Not To Eat?

Breakfast Debate: To Eat Or Not To Eat?

Newsy (Oct. 23, 2014) Conflicting studies published in the same week re-ignited the debate over whether we should be eating breakfast. Video provided by Newsy
Powered by NewsLook.com
Ebola Fears Keep Guinea Hospitals Empty

Ebola Fears Keep Guinea Hospitals Empty

AP (Oct. 23, 2014) Fears of Ebola are keeping doctors and patients alike away from hospitals in the West African nation of Guinea. (Oct. 23) Video provided by AP
Powered by NewsLook.com
Despite Rising Death Toll, Many Survive Ebola

Despite Rising Death Toll, Many Survive Ebola

AP (Oct. 23, 2014) The family of a Dallas nurse infected with Ebola in the US says doctors can no longer detect the virus in her. Despite the mounting death toll in West Africa, there are survivors there too. (Oct. 23) Video provided by AP
Powered by NewsLook.com
Orthodontist Mom Jennifer Salzer on the Best Time for Braces

Orthodontist Mom Jennifer Salzer on the Best Time for Braces

Working Mother (Oct. 22, 2014) Is your child ready? Video provided by Working Mother
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