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 Kilimanns 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.
Press Office | alfa
Microscope measures muscle weakness
16.11.2018 | Friedrich-Alexander-Universität Erlangen-Nürnberg
Good preparation is half the digestion
16.11.2018 | Max-Planck-Institut für Stoffwechselforschung
Researchers at the University of New Hampshire have captured a difficult-to-view singular event involving "magnetic reconnection"--the process by which sparse particles and energy around Earth collide producing a quick but mighty explosion--in the Earth's magnetotail, the magnetic environment that trails behind the planet.
Magnetic reconnection has remained a bit of a mystery to scientists. They know it exists and have documented the effects that the energy explosions can...
Biochips have been developed at TU Wien (Vienna), on which tissue can be produced and examined. This allows supplying the tissue with different substances in a very controlled way.
Cultivating human cells in the Petri dish is not a big challenge today. Producing artificial tissue, however, permeated by fine blood vessels, is a much more...
Faster and secure data communication: This is the goal of a new joint project involving physicists from the University of Würzburg. The German Federal Ministry of Education and Research funds the project with 14.8 million euro.
In our digital world data security and secure communication are becoming more and more important. Quantum communication is a promising approach to achieve...
On Saturday, 10 November 2018, the research icebreaker Polarstern will leave its homeport of Bremerhaven, bound for Cape Town, South Africa.
When choosing materials to make something, trade-offs need to be made between a host of properties, such as thickness, stiffness and weight. Depending on the application in question, finding just the right balance is the difference between success and failure
Now, a team of Penn Engineers has demonstrated a new material they call "nanocardboard," an ultrathin equivalent of corrugated paper cardboard. A square...
09.11.2018 | Event News
06.11.2018 | Event News
23.10.2018 | Event News
16.11.2018 | Health and Medicine
16.11.2018 | Life Sciences
16.11.2018 | Life Sciences