Featured Research

from universities, journals, and other organizations

New explanation for cardiac arrest

Date:
April 19, 2010
Source:
University of Gothenburg
Summary:
Researchers have discovered a new disorder linked to heart problems that stems from a genetic defect in the protein glycogenin. In a worst case scenario, disruption of this protein's function can lead to cardiac arrest, which is exactly what happened to one young man.

Researchers have discovered a new disorder linked to heart problems that stems from a genetic defect in the protein glycogenin. In a worst case scenario, disruption of this protein's function can lead to cardiac arrest, which is exactly what happened to the young man whose case triggered the investigation at Sahlgrenska University Hospital at the University of Gothenburg, Sweden, that led to a brand new diagnosis.

Related Articles


Published April 19 in the New England Journal of Medicine, the study details how a young man suffered a cardiac arrest but survived thanks to the work of the ambulance paramedics. An investigation at Sahlgrenska University Hospital led to the discovery of not only a new disorder but also how a defect in the protein glycogenin can lead to an energy crisis in the muscle cells.

This protein's job is to initiate the build-up of glycogen that constitutes the muscle cells' carbohydrate reserves. The glycogenin starts the actual process by building up a short chain of around ten sugar molecules, which can then be turned into glycogen with the help of other enzymes. During strong muscular work the sugar molecules in the glycogen are used to create energy.

"The disorder is characterised by an inability to form the initial chain of sugar molecules," says Anders Oldfors, who headed up the research team and is a professor at the Sahlgrenska Academy and consultant at Sahlgrenska University Hospital. "This leads to a shortage of glycogen and an energy crisis in the muscle cells that can result in cardiac arrest."

The study also reveals how muscle cells that have a severe congenital defect can adjust and find other ways of sourcing energy, though it may not be sufficient in all situations.

"We're hoping that our continued research in the field will provide answers to how the change in the glycogenin causes an inability to start accumulating carbohydrates in the muscle cells," says Oldfors.

Clinically, the discovery means that this disorder must be considered as a diagnosis when investigating heart problems. For patients, a correct diagnosis means that there is preventative treatment available, though no cure is on the horizon at present. As the cause of the disorder is a genetic defect, it is hoped that in the future patients can be given a customised treatment, or gene therapy, for it.

"But we don't yet know how common this disorder is," says Oldfors. "This is something that the future will hold now that we are in a position to make the correct diagnosis."

About Cardiac Arrest

Cardiac arrest occurs when the blood suddenly stops pumping out of the heart. This leads to unconsciousness, and the breathing stops on account of an inadequate supply of blood. It is one of the most common causes of death and accounts for 11-18 per cent of all deaths in Sweden. Many old people are affected, with the trigger frequently being a heart attack. Cardiac arrest is very rare in young people and is generally caused by some form of hereditary heart muscle disorder. Cardio-pulmonary resuscitation and defibrillation can save patients who have suffered cardiac arrest. Preventative treatment takes the form of medication, and a surgically inserted defibrillator can also be used as protection. According to the Swedish Resuscitation Council 300-400 people a year are revived after cardiac arrest outside hospital and roughly 1,000-1,500 people in hospital.


Story Source:

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


Journal Reference:

  1. Moslemi et al. Glycogenin-1 Deficiency and Inactivated Priming of Glycogen Synthesis. New England Journal of Medicine, 2010; 362 (13): 1203 DOI: 10.1056/NEJMoa0900661

Cite This Page:

University of Gothenburg. "New explanation for cardiac arrest." ScienceDaily. ScienceDaily, 19 April 2010. <www.sciencedaily.com/releases/2010/04/100419113700.htm>.
University of Gothenburg. (2010, April 19). New explanation for cardiac arrest. ScienceDaily. Retrieved November 28, 2014 from www.sciencedaily.com/releases/2010/04/100419113700.htm
University of Gothenburg. "New explanation for cardiac arrest." ScienceDaily. www.sciencedaily.com/releases/2010/04/100419113700.htm (accessed November 28, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Friday, November 28, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Rural India's Low-Cost Sanitary Pad Revolution

Rural India's Low-Cost Sanitary Pad Revolution

AFP (Nov. 28, 2014) — One man hopes his invention -– a machine that produces cheap sanitary pads –- will help empower Indian women. Duration: 01:51 Video provided by AFP
Powered by NewsLook.com
Research on Bats Could Help Develop Drugs Against Ebola

Research on Bats Could Help Develop Drugs Against Ebola

AFP (Nov. 28, 2014) — In Africa's only biosafety level 4 laboratory, scientists have been carrying out experiments on bats to understand how virus like Ebola are being transmitted, and how some of them resist to it. Duration: 01:18 Video provided by AFP
Powered by NewsLook.com
WHO Says Male Ebola Survivors Should Abstain From Sex

WHO Says Male Ebola Survivors Should Abstain From Sex

Newsy (Nov. 28, 2014) — WHO cites four studies that say Ebola can still be detected in semen up to 82 days after the onset of symptoms. Video provided by Newsy
Powered by NewsLook.com
Ebola Leaves Orphans Alone in Sierra Leone

Ebola Leaves Orphans Alone in Sierra Leone

AFP (Nov. 27, 2014) — The Ebola epidemic sweeping Sierra Leone is having a profound effect on the country's children, many of whom have been left without any family members to support them. Duration: 01:02 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