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 Tracing the evolution of vision
23.08.2019 | University of Göttingen

nachricht Caffeine does not influence stingless bees
23.08.2019 | Johannes Gutenberg-Universität Mainz

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

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

Im Focus: Hamburg and Kiel researchers observe spontaneous occurrence of skyrmions in atomically thin cobalt films

Since their experimental discovery, magnetic skyrmions - tiny magnetic knots - have moved into the focus of research. Scientists from Hamburg and Kiel have now been able to show that individual magnetic skyrmions with a diameter of only a few nanometres can be stabilised in magnetic metal films even without an external magnetic field. They report on their discovery in the journal Nature Communications.

The existence of magnetic skyrmions as particle-like objects was predicted 30 years ago by theoretical physicists, but could only be proven experimentally in...

Im Focus: Physicists create world's smallest engine

Theoretical physicists at Trinity College Dublin are among an international collaboration that has built the world's smallest engine - which, as a single calcium ion, is approximately ten billion times smaller than a car engine.

Work performed by Professor John Goold's QuSys group in Trinity's School of Physics describes the science behind this tiny motor.

Im Focus: Quantum computers to become portable

Together with the University of Innsbruck, the ETH Zurich and Interactive Fully Electrical Vehicles SRL, Infineon Austria is researching specific questions on the commercial use of quantum computers. With new innovations in design and manufacturing, the partners from universities and industry want to develop affordable components for quantum computers.

Ion traps have proven to be a very successful technology for the control and manipulation of quantum particles. Today, they form the heart of the first...

Im Focus: Towards an 'orrery' for quantum gauge theory

Experimental progress towards engineering quantized gauge fields coupled to ultracold matter promises a versatile platform to tackle problems ranging from condensed-matter to high-energy physics

The interaction between fields and matter is a recurring theme throughout physics. Classical cases such as the trajectories of one celestial body moving in the...

Im Focus: A miniature stretchable pump for the next generation of soft robots

Soft robots have a distinct advantage over their rigid forebears: they can adapt to complex environments, handle fragile objects and interact safely with humans. Made from silicone, rubber or other stretchable polymers, they are ideal for use in rehabilitation exoskeletons and robotic clothing. Soft bio-inspired robots could one day be deployed to explore remote or dangerous environments.

Most soft robots are actuated by rigid, noisy pumps that push fluids into the machines' moving parts. Because they are connected to these bulky pumps by tubes,...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

The power of thought – the key to success: CYBATHLON BCI Series 2019

16.08.2019 | Event News

4th Hybrid Materials and Structures 2020 28 - 29 April 2020, Karlsruhe, Germany

14.08.2019 | Event News

What will the digital city of the future look like? City Science Summit on 1st and 2nd October 2019 in Hamburg

12.08.2019 | Event News

 
Latest News

Making small intestine endoscopy faster with a pill-sized high-tech camera

23.08.2019 | Medical Engineering

More reliable operation offshore wind farms

23.08.2019 | Power and Electrical Engineering

Tracing the evolution of vision

23.08.2019 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>