Featured Research

from universities, journals, and other organizations

Genetic Mutation Causes Seizures And An Irregular Heartbeat

Date:
May 16, 2008
Source:
Journal of Clinical Investigation
Summary:
Exercise or becoming highly emotional can cause the heartbeat to become irregular, often causing sudden death, in individuals with an inherited heart disorder known as catecholaminergic polymorphic ventricular tachycardia (CPVT). The gene that is mutated in many individuals with CPVT carries the information for making a protein known as RyR2, which forms a channel through which Ca2+ passes.

Exercise or becoming highly emotional can cause the heartbeat to become irregular, often causing sudden death, in individuals with an inherited heart disorder known as catecholaminergic polymorphic ventricular tachycardia (CPVT).

Related Articles


The gene that is mutated in many individuals with CPVT carries the information for making a protein known as RyR2, which forms a channel through which Ca2+ passes. The genetic mutations in individuals with CPVT make the RyR2 channel leaky and this is thought to cause the potentially fatal irregular heartbeats. A large proportion of individuals with CPVT also suffer from seizures and these were thought to be caused by changes in the heartbeat.

However, Andrew Marks and colleagues, at Columbia University College of Physicians and Surgeons, New York, have now generated data in mice indicating that the seizures are directly caused by leaky RyR2 channels.

In the study, mice engineered to express the leaky RyR2 channel found in some individuals with CPVT were observed to suffer exercise-induced changes in their heartbeat, sudden death due to such changes, and spontaneous seizures. Importantly, the seizures occurred in the absence of changes in the heartbeat and Ca2+ leak was detected in cells in the brain. Additional evidence that leaky RyR2 channels in the brain and heart cause seizures and irregular heartbeats, respectively, was provided by the demonstration that a molecule that prevents the mutant RyR2 channels from leaking but does not inhibit their normal function reduced the frequency and severity of the seizures as well as eliminated the exercise-induced changes in heartbeat.


Story Source:

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


Journal Reference:

  1. Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice. Journal of Clinical Investigation. May 15, 2008.

Cite This Page:

Journal of Clinical Investigation. "Genetic Mutation Causes Seizures And An Irregular Heartbeat." ScienceDaily. ScienceDaily, 16 May 2008. <www.sciencedaily.com/releases/2008/05/080516163042.htm>.
Journal of Clinical Investigation. (2008, May 16). Genetic Mutation Causes Seizures And An Irregular Heartbeat. ScienceDaily. Retrieved October 31, 2014 from www.sciencedaily.com/releases/2008/05/080516163042.htm
Journal of Clinical Investigation. "Genetic Mutation Causes Seizures And An Irregular Heartbeat." ScienceDaily. www.sciencedaily.com/releases/2008/05/080516163042.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

Fauci Says Ebola Risk in US "essentially Zero"

Fauci Says Ebola Risk in US "essentially Zero"

AP (Oct. 30, 2014) NIAID Director Anthony Fauci said the risk of Ebola becoming an epidemic in the U.S. is essentially zero Thursday at the Washington Ideas Forum. He also said an Ebola vaccine will be tested in West Africa in the next few months. (Oct. 30) Video provided by AP
Powered by NewsLook.com
Nurse Defies Ebola Quarantine With Bike Ride

Nurse Defies Ebola Quarantine With Bike Ride

AP (Oct. 30, 2014) A nurse who vowed to defy Maine's voluntary quarantine for health care workers who treated Ebola patients followed through on her promise Thursday, leaving her home for an hour-long bike ride. (Oct. 30) Video provided by AP
Powered by NewsLook.com
Pot-Infused Edibles Raise Concerns in Colorado

Pot-Infused Edibles Raise Concerns in Colorado

AFP (Oct. 30, 2014) Colorado may have legalized marijuana for recreational use, but the debate around the decision still continues, with a recent - failed - attempt to ban cannabis-infused edibles. Duration: 01:53 Video provided by AFP
Powered by NewsLook.com
British Navy Ship Arrives in Sierra Leone With Ebola Aid

British Navy Ship Arrives in Sierra Leone With Ebola Aid

AFP (Oct. 30, 2014) The British ship RFA ARGUS arrived in Sierra Leone to deliver supplies and equipment to help the fight against Ebola. Duration: 00:42 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