Featured Research

from universities, journals, and other organizations

New Fatal Genetic Heart Disease Discovered

Date:
October 23, 2007
Source:
Göteborg University
Summary:
Researchers have discovered a previously unknown congenital disease that is caused by a genetic defect resulting in muscle cells not being able to store energy from sugar. In the worst case, the disease can lead to the heart stopping. Researchers also determined that people can live without glycogen. This finding may be of great significance for research regarding type 2 diabetes.

Researchers at the Sahlgrenska Academy have discovered a previously unknown congenital disease that is caused by a genetic defect resulting in muscle cells not being able to store energy from sugar. In the worst case, the disease can lead to the heart stopping.

Related Articles


The researchers have identified three sisters who have a previously unknown disease that affects the heart and muscles. The oldest child, who was being treated for epilepsy, did not have the energy to play as much as her friends, but in general was considered to be a normal child. At the age of 10 the child died suddenly while playing in the school playground. The post-mortem examination noted that the cardiac muscle was enlarged - a condition that can result in impaired circulation and lead to heart failure.

When one of the younger siblings displayed similar symptoms a specimen of the child’s muscle tissue was taken. It revealed that the muscle lacked glycogen, one of the major sources of fast energy for muscles.

Glycogen consists of long sugar chains that are manufactured and stored in the cells. When the cell requires additional energy the sugar chains are cut into pieces and form glucose. As the heart is a muscle that never rests, it is in constant need of energy. When it is under strain it has to derive additional energy from glycogen.

The disease is rare. A genetic analysis of 100 people in the population group revealed that one was a carrier. Two carriers are required for the disease to develop.

The discovery that people can live without glycogen can also be of great significance for research into other conditions, among others diabetes type 2, where one theory is that reduced formation of glycogen in the muscles is the cause of reduced insulin sensitivity and increased blood sugar.

The study is presented in the medical journal, New England Journal of Medicine.


Story Source:

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


Cite This Page:

Göteborg University. "New Fatal Genetic Heart Disease Discovered." ScienceDaily. ScienceDaily, 23 October 2007. <www.sciencedaily.com/releases/2007/10/071020105657.htm>.
Göteborg University. (2007, October 23). New Fatal Genetic Heart Disease Discovered. ScienceDaily. Retrieved April 21, 2015 from www.sciencedaily.com/releases/2007/10/071020105657.htm
Göteborg University. "New Fatal Genetic Heart Disease Discovered." ScienceDaily. www.sciencedaily.com/releases/2007/10/071020105657.htm (accessed April 21, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Tuesday, April 21, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Humanoid Robot Can Recognise and Interact With People

Humanoid Robot Can Recognise and Interact With People

Reuters - Innovations Video Online (Apr. 20, 2015) — An ultra-realistic humanoid robot called &apos;Han&apos; recognises and interprets people&apos;s facial expressions and can even hold simple conversations. Developers Hanson Robotics hope androids like Han could have uses in hospitality and health care industries where face-to-face communication is vital. Matthew Stock reports. Video provided by Reuters
Powered by NewsLook.com
Labour Party Warns Britain's Health Service 'on Life Support'

Labour Party Warns Britain's Health Service 'on Life Support'

AFP (Apr. 20, 2015) — Britain&apos;s opposition Labour Party Monday claimed the National Health Service (NHS) was &apos;on life support&apos; as it turned its attention to the state-run service, which is a key issue for the UK&apos;s May 7 general election. Video provided by AFP
Powered by NewsLook.com
Sierra Leone Students Back to School After Long Ebola Closure

Sierra Leone Students Back to School After Long Ebola Closure

Reuters - News Video Online (Apr. 20, 2015) — After an eight-month break, children in Sierra Leone return to school for the first time since the beginning of the Ebola outbreak. Nathan Frandino reports. Video provided by Reuters
Powered by NewsLook.com
Teen E-Cigarette Use Triples, Government Debates Regulations

Teen E-Cigarette Use Triples, Government Debates Regulations

Newsy (Apr. 19, 2015) — The Centers for Disease Control and Prevention says in 2014, 13.4 percent of high school students reported smoking an e-cigarette within 30 days. Video provided by Newsy
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