Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Gene leads to malformation of the urinary tract

13.03.2015

An interdisciplinary team of researchers under the direction of the University of Bonn Hospital have discovered a gene which is associated with a rare congenital anomaly of the urinary tract called classic bladder exstrophy. It increases the likelihood that the urinary tract will not form properly during embryonic development. The finding is an important step for understanding the development of urinary tract malformations in general and for developing prophylactic measures. The results are published in the current online edition of the journal "PloS Genetics".

The kidneys and urinary tract are the sites affected most frequently by congenital malformations. Approximately 1 out of every 200 children suffers from such a malformation.


Prof. Dr. Michael Ludwig, Dr. Heiko Reutter and Prof. Dr. Markus Nöthen of the University of Bonn Hospital (from left).

(c) Photo: Katharina Wislsperger/UKB

"These diseases make up about 20 to 30 percent of all congenital malformations," says Associate Professor Dr. Heiko Reutter from the Institute of Human Genetics and the Department of Neonatology and Pediatric Intensive Care Medicine of the University of Bonn.

For many years, the pediatrician has investigated the genetic causes of classic bladder exstrophy comprising malformations ranging from the bladder to the entire urinary tract. These malformations frequently result in urinary tract infections, incontinence, renal damage and sexual dysfunction.

Approximately one out of 20,000 newborns is affected by this rare disease which is considered to be one of the most severe forms of malformations on this spectrum. "Congenital classic bladder exstrophy thus represents an enormous challenge in the medical care of patients affected and their families," says Dr. Reutter.

Focus at the Center for Rare Diseases

To date, the genetic causes of this rare disease have been basically unknown. In the past ten years, with the bladder extrophy/epispadias self-help group and leading pediatric urologists and pediatric surgeons in Germany - including from the Barmherzigen Brüder Pediatric Hospital in Regensburg as well as the universities of Mainz and Ulm - researchers at the University of Bonn hospital have been able to gather the largest group of patients in the world.

The researchers in Bonn received additional support for the current study from researchers at the Max Planck Institute for Molecular Genetics in Berlin. Assistance was also provided by the Center for Rare Diseases at the University of Bonn Hospital (ZSEB). The researchers focus on rare uro-rectal malformations there.

Using blood samples from a total of 210 patients, the scientists isolated the genetic information and compared it with a control group of healthy persons. The researchers used automated analysis methods to record more than 700,000 genetic markers in each case which are evenly distributed throughout the DNA.

The evaluation using biostatistical methods revealed a clear connection with an altered gene: ISL1, which is located on chromosome five. "In this way, a gene in connection with this disease was identified for the very first time," says Prof. Dr. Michael Ludwig from the Institute of Clinical Chemistry and Clinical Pharmacology of the University of Bonn Hospital.

The search for other genes

This has been a breakthrough for science. "With the discovery of this gene, it now becomes possible to clarify the biological foundations of this disease," says Prof. Dr. Markus Nöthen from the Institute of Human Genetics from the University of Bonn. Beyond the genetic causes of classic exstrophy, the objective is to now identify risk factors during pregnancy and to develop preventive approaches from this for the unborn child.

Further investigations are intended to demonstrate which yet undiscovered genes play an additional role in the development of the disease. The scientists are still looking for affected to continue the studies. Anyone interested may email Dr. Reutter directly: reutter@uni-bonn.de.

Publication: Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy, "PLOS Genetics", DOI: 10.1371/journal.pgen.1005024.

Media contact information:

PD Dr. Heiko Reutter
Institute of Human Genetics/Department
of Neonatology and Pediatric Intensive Care Medicine
of the University of Bonn Hospital
Tel. ++49-(0)228-28751000
E-Mail: reutter@uni-bonn.de

Johannes Seiler | idw - Informationsdienst Wissenschaft
Further information:
http://www.uni-bonn.de/

More articles from Interdisciplinary Research:

nachricht Bergamotene - alluring and lethal for Manduca sexta
21.04.2017 | Max-Planck-Institut für chemische Ökologie

nachricht How to color a lizard: From biology to mathematics
13.04.2017 | Université de Genève

All articles from Interdisciplinary Research >>>

The most recent press releases about innovation >>>

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

Im Focus: A quantum walk of photons

Physicists from the University of Würzburg are capable of generating identical looking single light particles at the push of a button. Two new studies now demonstrate the potential this method holds.

The quantum computer has fuelled the imagination of scientists for decades: It is based on fundamentally different phenomena than a conventional computer....

Im Focus: Turmoil in sluggish electrons’ existence

An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.

We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...

Im Focus: Wafer-thin Magnetic Materials Developed for Future Quantum Technologies

Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.

Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...

Im Focus: World's thinnest hologram paves path to new 3-D world

Nano-hologram paves way for integration of 3-D holography into everyday electronics

An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...

Im Focus: Using graphene to create quantum bits

In the race to produce a quantum computer, a number of projects are seeking a way to create quantum bits -- or qubits -- that are stable, meaning they are not much affected by changes in their environment. This normally needs highly nonlinear non-dissipative elements capable of functioning at very low temperatures.

In pursuit of this goal, researchers at EPFL's Laboratory of Photonics and Quantum Measurements LPQM (STI/SB), have investigated a nonlinear graphene-based...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

AWK Aachen Machine Tool Colloquium 2017: Internet of Production for Agile Enterprises

23.05.2017 | Event News

Dortmund MST Conference presents Individualized Healthcare Solutions with micro and nanotechnology

22.05.2017 | Event News

 
Latest News

Physicists discover mechanism behind granular capillary effect

24.05.2017 | Physics and Astronomy

Measured for the first time: Direction of light waves changed by quantum effect

24.05.2017 | Physics and Astronomy

Marine Conservation: IASS Contributes to UN Ocean Conference in New York on 5-9 June

24.05.2017 | Event News

VideoLinks
B2B-VideoLinks
More VideoLinks >>>