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 January 30, 2015 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 January 30, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, January 30, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Oxfam Calls for Massive Aid for Ebola-Hit West Africa

Oxfam Calls for Massive Aid for Ebola-Hit West Africa

AFP (Jan. 29, 2015) Oxfam International has called for a multi-million dollar post-Ebola "Marshall Plan", with financial support given by wealthy countries, to help Guinea, Sierra Leone and Liberia to recover. Duration: 01:10 Video provided by AFP
Powered by NewsLook.com
Are We Winning The Fight Against Ebola?

Are We Winning The Fight Against Ebola?

Newsy (Jan. 29, 2015) The World Health Organization announced the fight against Ebola has entered its second phase as the number of cases per week has steadily dropped. Video provided by Newsy
Powered by NewsLook.com
Calif. Health Officials Campaign Against E-Cigarettes

Calif. Health Officials Campaign Against E-Cigarettes

Newsy (Jan. 29, 2015) The California Health Department says e-cigarettes are a public health risk for both smokers and those who inhale e-cig smoke secondhand. Video provided by Newsy
Powered by NewsLook.com
Measles Scare Sends 66 Calif. Students Home

Measles Scare Sends 66 Calif. Students Home

AP (Jan. 29, 2015) Officials say 66 students at a Southern California high school have been told to stay home through the end of next week because they may have been exposed to measles and are not vaccinated. (Jan. 29) Video provided by AP
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