Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Mutated gene causes serious heart disease in newborns

04.05.2005


The research group of professor Manfred Kilimann at the Department of Cell and Molecular Biology has elucidated the genetic cause of a severe heart disease in newborn children. This result will be published in the June issue of the American Journal of Human Genetics this week.



Cardiomyopathies are diseases of the heart muscle tissue and often lead to heart failure. Most of them are inborn and can be caused by gene defects (mutations) affecting various proteins needed either for the contraction or the energy supply of the heart. The subject of professor Kilimann’s research was a rare but particularly malignant form of cardiomyopathy: fatal congenital nonlysosomal heart glycogenosis (FCNHG). Children with this disease have a dramatically enlarged heart (5 times the normal weight) and arrhythmia, and die from heart failure and respiratory complications at a few weeks of age.

"Earlier biochemical research had attributed this disease to a defect in an enzyme of energy metabolism, phosphorylase kinase (Phk), but when we analyzed the Phk genes, we found them to be normal. The earlier molecular explanation of FCNHG was apparently in error. We finally had the idea to look into another gene, of AMP-activated protein kinase (PRKAG2), which is also involved in energy metabolism and was known to cause a related but much milder cardiomyopathy that develops in juvenile or young adult patients. Indeed, in several patients from different countries we found exactly the same mutation. In collaboration with a British laboratory, the mutant protein was produced in the test tube, and found to be much more severely altered in its molecular properties than the mutant proteins from adult patients described previously", says Manfred Kilimann.


These findings have no immediate therapeutic consequences in this severe disease, for which there is no known cure other than a heart transplantation. However, they make diagnosis, prognosis and genetic counseling much more reliable. One important finding of these studies is that the FCNHG mutation always arises newly. Parents of a child with this mutation can therefore be given the reassuring advice that the risk of having another affected child is very low. Moreover, the results have implications far beyond FCNHG. AMP-activated protein kinase is also involved in cardiac infarction and type 2 diabetes, and therefore is an important potential drug target in these widespread diseases. Understanding its molecular structure and functioning, to which these studies have contributed, is expected to aid in drug development.

"Solving the riddle of FCNHG has required much effort and determination. We have worked on it for 12 years, analyzing 11 genes, in collaboration with partners in Germany, Britain and the USA. Having finally cracked the problem is a very rewarding experience for me, being both a scientist and a medical doctor".

Press Office | alfa
Further information:
http://www.vr.se

More articles from Life Sciences:

nachricht Symbiotic bacteria: from hitchhiker to beetle bodyguard
28.04.2017 | Johannes Gutenberg-Universität Mainz

nachricht Nose2Brain – Better Therapy for Multiple Sclerosis
28.04.2017 | Fraunhofer-Institut für Grenzflächen- und Bioverfahrenstechnik IGB

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Making lightweight construction suitable for series production

More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.

Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...

Im Focus: Wonder material? Novel nanotube structure strengthens thin films for flexible electronics

Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.

"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...

Im Focus: Deep inside Galaxy M87

The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.

Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...

Im Focus: A Quantum Low Pass for Photons

Physicists in Garching observe novel quantum effect that limits the number of emitted photons.

The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...

Im Focus: Microprocessors based on a layer of just three atoms

Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.

Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Fighting drug resistant tuberculosis – InfectoGnostics meets MYCO-NET² partners in Peru

28.04.2017 | Event News

Expert meeting “Health Business Connect” will connect international medical technology companies

20.04.2017 | Event News

Wenn der Computer das Gehirn austrickst

18.04.2017 | Event News

 
Latest News

Wireless power can drive tiny electronic devices in the GI tract

28.04.2017 | Medical Engineering

Ice cave in Transylvania yields window into region's past

28.04.2017 | Earth Sciences

Nose2Brain – Better Therapy for Multiple Sclerosis

28.04.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>