Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Scientists have discovered the cause of the hereditary disease PCH

20.08.2008
Most of those affected have a common ancestor

Scientists from Cologne and Amsterdam have discovered the mutations in human genetics, which cause the hereditary disease ponto cerebellar hypoplasia (PCH) of the types 2 and 4.

“In the case of PCH, the protein complex – the so-called tRNA-Splicing-Endonuclease, is mutated. This complex in involved in the manufacture of proteins in the human body and was identified in connection with a disease for the first time,” reports Birgit Budde from the Cologne Center for Genomics and Institute for Genetics of the University of Cologne.

The disease PCH occurs when certain areas of the brain do not develop properly; this results in severe mental and physical developmental disorders. Life expectancy of those affected ranges from a few months to a few years. PCH2 was first described as a syndrome in 1990 with reference to persons affected who came from the Dutch fishing village Volendam.

Due to historical reasons, the village became isolated and remained so over centuries; the inhabitants began to marry close relatives. This resulted in a conspicuously high amount of cases of the illness in this village, as PCH usually only occurs, when both parents pass on the predisposition for this disease. Families from Volendam were the starting point for the present study.

In the mean time, cases of the disease have been discovered in other parts of Europe. Based on these, scientists have been able to prove that the majority of the cases of PCH2, including those of the village of Volendam, have a common ancestor. This common ancestor lived during the 17th century. The results of the most recent research will be published in the renowned magazine Nature Genetics. “The identification of mutations, which cause PCH2 and PCH4, is an important step in the research of ponto cerebellar hypoplasia,” according to Dr. Budde.

Patrick Honecker | alfa
Further information:
http://www.uni-koeln.de
http://www.ccg.uni-koeln.de/

More articles from Life Sciences:

nachricht Microscope measures muscle weakness
16.11.2018 | Friedrich-Alexander-Universität Erlangen-Nürnberg

nachricht Good preparation is half the digestion
16.11.2018 | Max-Planck-Institut für Stoffwechselforschung

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: UNH scientists help provide first-ever views of elusive energy explosion

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...

Im Focus: A Chip with Blood Vessels

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...

Im Focus: A Leap Into Quantum Technology

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...

Im Focus: Research icebreaker Polarstern begins the Antarctic season

What does it look like below the ice shelf of the calved massive iceberg A68?

On Saturday, 10 November 2018, the research icebreaker Polarstern will leave its homeport of Bremerhaven, bound for Cape Town, South Africa.

Im Focus: Penn engineers develop ultrathin, ultralight 'nanocardboard'

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...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

“3rd Conference on Laser Polishing – LaP 2018” Attracts International Experts and Users

09.11.2018 | Event News

On the brain’s ability to find the right direction

06.11.2018 | Event News

European Space Talks: Weltraumschrott – eine Gefahr für die Gesellschaft?

23.10.2018 | Event News

 
Latest News

Purdue cancer identity technology makes it easier to find a tumor's 'address'

16.11.2018 | Health and Medicine

Good preparation is half the digestion

16.11.2018 | Life Sciences

Microscope measures muscle weakness

16.11.2018 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>