Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:


Mutated gene causes serious heart disease in newborns


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:

More articles from Life Sciences:

nachricht First time-lapse footage of cell activity during limb regeneration
25.10.2016 | eLife

nachricht Phenotype at the push of a button
25.10.2016 | Institut für Pflanzenbiochemie

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Etching Microstructures with Lasers

Ultrafast lasers have introduced new possibilities in engraving ultrafine structures, and scientists are now also investigating how to use them to etch microstructures into thin glass. There are possible applications in analytics (lab on a chip) and especially in electronics and the consumer sector, where great interest has been shown.

This new method was born of a surprising phenomenon: irradiating glass in a particular way with an ultrafast laser has the effect of making the glass up to a...

Im Focus: Light-driven atomic rotations excite magnetic waves

Terahertz excitation of selected crystal vibrations leads to an effective magnetic field that drives coherent spin motion

Controlling functional properties by light is one of the grand goals in modern condensed matter physics and materials science. A new study now demonstrates how...

Im Focus: New 3-D wiring technique brings scalable quantum computers closer to reality

Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.

"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...

Im Focus: Scientists develop a semiconductor nanocomposite material that moves in response to light

In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.

A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...

Im Focus: Diamonds aren't forever: Sandia, Harvard team create first quantum computer bridge

By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.

"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...

All Focus news of the innovation-report >>>



Event News

#IC2S2: When Social Science meets Computer Science - GESIS will host the IC2S2 conference 2017

14.10.2016 | Event News

Agricultural Trade Developments and Potentials in Central Asia and the South Caucasus

14.10.2016 | Event News

World Health Summit – Day Three: A Call to Action

12.10.2016 | Event News

Latest News

First results of NSTX-U research operations

26.10.2016 | Physics and Astronomy

UCI and NASA document accelerated glacier melting in West Antarctica

26.10.2016 | Earth Sciences

Ice shelf vibrations cause unusual waves in Antarctic atmosphere

25.10.2016 | Earth Sciences

More VideoLinks >>>