Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

New Disease Discovered

05.05.2009
In the genetic material of a young woman, an international team of scientists has discovered a genetic defect unknown so far. Due to this defect, the human body is not able any longer to repair certain DNA damages.

The DNA is being damaged continuously: It is affected by solar UV radiation just as by toxic substances from the environment. However, defects also occur during cell division: For this, the DNA has to be doubled and during this complex process defects occur occasionally.

On principle, the organism is able to repair such damages on its own, even serious damages like complete DNA double-strand breaks at the same site. In this case, first the so-called MRN protein complex is called into action: By means of this complex, the damage is detected and signaled to the repair system of the cell.

Important protein complex does not work properly

In the case of the young woman, this important protein complex does not work properly. The scientists are familiar with the complex: It consists of three proteins. For two of them, mutations are known for years. The newly discovered defect concerns the third protein which is referred to as RAD50 and which holds the ends of the DNA break together like a molecular clamp.

"We know the patient and her parents for almost 15 years now" says Prof. Detlev Schindler of the Institute for Human Genetics of the University of Würzburg. At the beginning, the scientists assumed that the girl was suffering from the so-called Nijmegen breakage syndrome (NBS). This congenital disease results from one of the defects of the protein complex known at that time. It is very rare and, statistically speaking, it only affects one in three million people.

Patient not affected by serious complications

The young woman shows symptoms that are typical for this disease: microcephaly, growth retardation as well as physical and mental retardation. In the course of time, it turned out that something was different with that woman, because she was not affected by the serious complications of the disease. She never experienced serious respiratory infections which very often are fatal for NBS patients. Her immune defence is normal. To date, she shows no signs of lymph gland cancer.

Now, the reason for those deviations has been found: The patient does not suffer from NBS, but from a disease which has been unknown so far. The scientists called it "NBS-like disorder". The mutation on which the disease is based has been characterized by the researchers from Würzburg in cooperation with colleagues from Hanover, Magdeburg, Berlin, Israel and Australia.

The woman's organism does not form enough RAD50 proteins. Moreover, the residual proteins do not execute their function sufficiently. "There are a residual quantity and a residual function, and possibly this is the only reason why the patient is still alive", says Detlev Schindler. Because if no RAD50 is available at all for an organism, it dies already as an embryo. This is known from mice showing the defect mentioned above. Perhaps the patient's mutation is so rare that she is one of only few living people suffering from this disease.

Benefits of the findings

What are the benefits of these findings? The patient herself cannot benefit from the findings. However, perhaps they might be helpful for the parents of children for whom there is a suspicion of having the Nijmegen breakage syndrome. Because now, by means of genetic diagnostics it is possible to verify whether they are really suffering from this serious syndrome or from the newly discovered disease.

The research results also offer benefits for science. "We have clarified another step going on during the repair of DNA double-strand breaks and we begin to understand which role it plays", says the professor from Würzburg. Currently, he and his team examine how the RAD50 protein works together with other proteins. This work shall provide further findings concerning the signaling pathways within the cell allowing the organism to eliminate damages of the genetic material.

For further information

Professor Detlev Schindler, Phone ++49 (931) 31-88075, schindler@biozentrum.uni-wuerzburg.de

"Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder", Regina Waltes, Reinhard Kalb, Magtouf Gatei, Amanda Kijas, Markus Stumm, Alexandra Sobeck, Britta Wieland, Raymonda Varon, Yaniv Lerenthal, Martin F. Lavin, Detlev Schindler, and Thilo Dörk, The American Journal of Human Genetics (2009), doi: 10.1016/j.ajhg.2009.04.010

Robert Emmerich | idw
Further information:
http://www.uni-wuerzburg.de/

More articles from Life Sciences:

nachricht Embryonic development: How do limbs develop from cells?
18.05.2018 | Humboldt-Universität zu Berlin

nachricht Reading histone modifications, an oncoprotein is modified in return
18.05.2018 | American Society for Biochemistry and Molecular Biology

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Explanation for puzzling quantum oscillations has been found

So-called quantum many-body scars allow quantum systems to stay out of equilibrium much longer, explaining experiment | Study published in Nature Physics

Recently, researchers from Harvard and MIT succeeded in trapping a record 53 atoms and individually controlling their quantum state, realizing what is called a...

Im Focus: Dozens of binaries from Milky Way's globular clusters could be detectable by LISA

Next-generation gravitational wave detector in space will complement LIGO on Earth

The historic first detection of gravitational waves from colliding black holes far outside our galaxy opened a new window to understanding the universe. A...

Im Focus: Entangled atoms shine in unison

A team led by Austrian experimental physicist Rainer Blatt has succeeded in characterizing the quantum entanglement of two spatially separated atoms by observing their light emission. This fundamental demonstration could lead to the development of highly sensitive optical gradiometers for the precise measurement of the gravitational field or the earth's magnetic field.

The age of quantum technology has long been heralded. Decades of research into the quantum world have led to the development of methods that make it possible...

Im Focus: Computer-Designed Customized Regenerative Heart Valves

Cardiovascular tissue engineering aims to treat heart disease with prostheses that grow and regenerate. Now, researchers from the University of Zurich, the Technical University Eindhoven and the Charité Berlin have successfully implanted regenerative heart valves, designed with the aid of computer simulations, into sheep for the first time.

Producing living tissue or organs based on human cells is one of the main research fields in regenerative medicine. Tissue engineering, which involves growing...

Im Focus: Light-induced superconductivity under high pressure

A team of scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg investigated optically-induced superconductivity in the alkali-doped fulleride K3C60under high external pressures. This study allowed, on one hand, to uniquely assess the nature of the transient state as a superconducting phase. In addition, it unveiled the possibility to induce superconductivity in K3C60 at temperatures far above the -170 degrees Celsius hypothesized previously, and rather all the way to room temperature. The paper by Cantaluppi et al has been published in Nature Physics.

Unlike ordinary metals, superconductors have the unique capability of transporting electrical currents without any loss. Nowadays, their technological...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Save the date: Forum European Neuroscience – 07-11 July 2018 in Berlin, Germany

02.05.2018 | Event News

Invitation to the upcoming "Current Topics in Bioinformatics: Big Data in Genomics and Medicine"

13.04.2018 | Event News

Unique scope of UV LED technologies and applications presented in Berlin: ICULTA-2018

12.04.2018 | Event News

 
Latest News

Supersonic waves may help electronics beat the heat

18.05.2018 | Power and Electrical Engineering

Keeping a Close Eye on Ice Loss

18.05.2018 | Information Technology

CrowdWater: An App for Flood Research

18.05.2018 | Information Technology

VideoLinks
Science & Research
Overview of more VideoLinks >>>