Featured Research

from universities, journals, and other organizations

Genes That Cause Hereditary Disease PCH Discovered

Date:
August 21, 2008
Source:
University Of Cologne
Summary:
Scientists from Cologne and Amsterdam have discovered the mutations in humans that cause the hereditary disease ponto cerebellar hypoplasia (PCH), types 2 and 4.

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

Related Articles


“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 journal 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.


Story Source:

The above story is based on materials provided by University Of Cologne. Note: Materials may be edited for content and length.


Cite This Page:

University Of Cologne. "Genes That Cause Hereditary Disease PCH Discovered." ScienceDaily. ScienceDaily, 21 August 2008. <www.sciencedaily.com/releases/2008/08/080819160421.htm>.
University Of Cologne. (2008, August 21). Genes That Cause Hereditary Disease PCH Discovered. ScienceDaily. Retrieved October 25, 2014 from www.sciencedaily.com/releases/2008/08/080819160421.htm
University Of Cologne. "Genes That Cause Hereditary Disease PCH Discovered." ScienceDaily. www.sciencedaily.com/releases/2008/08/080819160421.htm (accessed October 25, 2014).

Share This



More Health & Medicine News

Saturday, October 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

IKEA Desk Converts From Standing to Sitting With One Button

IKEA Desk Converts From Standing to Sitting With One Button

Buzz60 (Oct. 24, 2014) IKEA is out with a new convertible desk that can convert from a sitting desk to a standing one with just the push of a button. Jen Markham explains. Video provided by Buzz60
Powered by NewsLook.com
Ebola Protective Suits Being Made in China

Ebola Protective Suits Being Made in China

AFP (Oct. 24, 2014) A factory in China is busy making Ebola protective suits for healthcare workers and others fighting the spread of the virus. Duration: 00:38 Video provided by AFP
Powered by NewsLook.com
WHO: Millions of Ebola Vaccine Doses by 2015

WHO: Millions of Ebola Vaccine Doses by 2015

AP (Oct. 24, 2014) The World Health Organization said on Friday that millions of doses of two experimental Ebola vaccines could be ready for use in 2015 and five more experimental vaccines would start being tested in March. (Oct. 24) Video provided by AP
Powered by NewsLook.com
Doctor in NYC Quarantined With Ebola

Doctor in NYC Quarantined With Ebola

AP (Oct. 24, 2014) An emergency room doctor who recently returned to the city after treating Ebola patients in West Africa has tested positive for the virus. He's quarantined in a hospital. (Oct. 24) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins