Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

New explanation for cardiac arrest

20.04.2010
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.

Published today in the revered 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."

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.
For more information, please contact:
Professor Anders Oldfors, Department of Pathology, Institute of Biomedicine, tel: +46 31 342 2084, mobile: +46 707 33 8116, e-mail: anders.oldfors@gu.se
Associate professor Ali-Reza Moslemi, Department of Pathology, Institute of Biomedicine, tel: +46 31 342 2343, e-mail: ali-reza.moslemi@pathology.gu.se
Associate professor Christopher Lindberg, Department of Clinical Neuroscience and Rehabilitation and consultant at Sahlgrenska University Hospital, tel: +46 31 342 9031, e-mail:christopher.lindberg@vgregion.se
Associate professor Bert Andersson, Department of Molecular and Clinical Medicine and consultant at Sahlgrenska University Hospital, tel: +46 31 342 7537, e-mail: Bert.Andersson@wlab.gu.se
Journal: New England Journal of Medicine (2010) Vol 362, no 13, pp 1203-1210
Title of article: Glycogenin-1 Deficiency and Inactivated Priming of Glycogen Synthesis

Authors: Ali-Reza Moslemi, Christopher Lindberg, Johanna Nilsson, Homa Tajsharghi, Bert Andersson and Anders Oldfors

Helena Aaberg | idw
Further information:
http://www.sahlgrenska.gu.se/

More articles from Health and Medicine:

nachricht Study tracks inner workings of the brain with new biosensor
16.08.2018 | Rheinische Friedrich-Wilhelms-Universität Bonn

nachricht Foods of the future
15.08.2018 | Georg-August-Universität Göttingen

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Color effects from transparent 3D-printed nanostructures

New design tool automatically creates nanostructure 3D-print templates for user-given colors
Scientists present work at prestigious SIGGRAPH conference

Most of the objects we see are colored by pigments, but using pigments has disadvantages: such colors can fade, industrial pigments are often toxic, and...

Im Focus: Unraveling the nature of 'whistlers' from space in the lab

A new study sheds light on how ultralow frequency radio waves and plasmas interact

Scientists at the University of California, Los Angeles present new research on a curious cosmic phenomenon known as "whistlers" -- very low frequency packets...

Im Focus: New interactive machine learning tool makes car designs more aerodynamic

Scientists develop first tool to use machine learning methods to compute flow around interactively designable 3D objects. Tool will be presented at this year’s prestigious SIGGRAPH conference.

When engineers or designers want to test the aerodynamic properties of the newly designed shape of a car, airplane, or other object, they would normally model...

Im Focus: Robots as 'pump attendants': TU Graz develops robot-controlled rapid charging system for e-vehicles

Researchers from TU Graz and their industry partners have unveiled a world first: the prototype of a robot-controlled, high-speed combined charging system (CCS) for electric vehicles that enables series charging of cars in various parking positions.

Global demand for electric vehicles is forecast to rise sharply: by 2025, the number of new vehicle registrations is expected to reach 25 million per year....

Im Focus: The “TRiC” to folding actin

Proteins must be folded correctly to fulfill their molecular functions in cells. Molecular assistants called chaperones help proteins exploit their inbuilt folding potential and reach the correct three-dimensional structure. Researchers at the Max Planck Institute of Biochemistry (MPIB) have demonstrated that actin, the most abundant protein in higher developed cells, does not have the inbuilt potential to fold and instead requires special assistance to fold into its active state. The chaperone TRiC uses a previously undescribed mechanism to perform actin folding. The study was recently published in the journal Cell.

Actin is the most abundant protein in highly developed cells and has diverse functions in processes like cell stabilization, cell division and muscle...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

LaserForum 2018 deals with 3D production of components

17.08.2018 | Event News

Within reach of the Universe

08.08.2018 | Event News

A journey through the history of microscopy – new exhibition opens at the MDC

27.07.2018 | Event News

 
Latest News

Smallest transistor worldwide switches current with a single atom in solid electrolyte

17.08.2018 | Physics and Astronomy

Robots as Tools and Partners in Rehabilitation

17.08.2018 | Information Technology

Climate Impact Research in Hannover: Small Plants against Large Waves

17.08.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>