Featured Research

from universities, journals, and other organizations

New Mechanism In Development Of Severe Inherited Disease Discovered

Date:
September 5, 2007
Source:
Helmholtz Association
Summary:
Scientists have shown that the genetic defect that causes Cockayne Syndrome affects a key function of the cell - the transcription of genes coding for ribosomal RNA. Cockayne Syndrome is a recessively inherited disorder that belongs to a group of diseases in which defects in one of the numerous DNA repair systems lead to non-functioning proteins and, thus, to severe health impairments. These disorders also include, for example, Xeroderma pigmentosum and a type of hereditary bowel cancer.

Scientists of the German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) have shown that the genetic defect that causes Cockayne Syndrome affects a key function of the cell - the transcription of genes coding for ribosomal RNA.

Related Articles


Cockayne Syndrome is a recessively inherited disorder that belongs to a group of diseases in which defects in one of the numerous DNA repair systems lead to non-functioning proteins and, thus, to severe health impairments. These disorders also include, for example, Xeroderma pigmentosum and a type of hereditary bowel cancer.

However, symptoms of Cockayne Syndrome, which is a very rare disease, are particularly severe, including dwarfism, mental retardation, hearing and vision impairments; affected individuals have a characteristically formed small head, they age prematurely and die younger. The scale of these defects suggested that a dysfunctional DNA repair mechanism alone cannot be responsible for this whole range of impairments.

Cockayne Syndrome is characterized by a defect in the CSB protein, which is the main component of a particular DNA repair system. Research results of several working groups had already suggested that CSB is additionally involved in transcription, i.e. the conversion of DNA to RNA. However, the exact mechanism had remained unknown.

In each cell, various RNA types are responsible for specific tasks. Thus, the so-called rRNA is a key component of the ribosomes, the protein factories of the cell. A research group headed by Professor Dr. Ingrid Grummt of the German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) has now shown that CSB is pivotal in the production of rRNA molecules.

A basic prerequisite for the conversion of DNA to RNA is the accessibility of genes, which are normally tightly packed in the chromosome. Only if the genes are accessible can the enzyme RNA polymerase go about its work and synthesize new RNA molecules according to the DNA code. This is where CBS comes into play: It functions as an adapter between polymerase and the G9a protein, which acts like an icebreaker - making specific regions of the genetic material accessible for polymerase by chemically modifying the protein scaffold of the chromosome.

Without functioning CBS, the binding of polymerase I and G9a fails and the genes coding for rRNAs remain inaccessible for polymerase. The lack of rRNAs eventually leads to a standstill of protein synthesis in the cell - the most dramatic of imaginable consequences for an organism. This newly discovered function of CBS explains why a defect of this enzyme has such severe effects on the organism.

Xuejun Yuan, Weiijun Feng, Axel Imhof, Ingrid Grummt and Yonggang Zhou: Activation of RNA polymerase I transcription by Cockayne Syndrome group B (CSB) protein and histone methyltransferase G9a. Molecular Cell, August 19, 2007

The task of the Deutsches Krebsforschungszentrum in Heidelberg (German Cancer Research Center, DKFZ) is to systematically investigate the mechanisms of cancer development and to identify cancer risk factors. The findings resulting from basic research are expected to lead to new approaches in the prevention, diagnosis, and treatment of cancer. Funding is provided by the Federal Ministry of Education and Research (BMBF; 90 percent) and by the State of Baden-Wuerttemberg (10 percent). The German Cancer Research Center is a member of the Helmholtz Association of National Research Centers (Helmholtz-Gemeinschaft Deutscher Forschungszentren e.V.).


Story Source:

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


Cite This Page:

Helmholtz Association. "New Mechanism In Development Of Severe Inherited Disease Discovered." ScienceDaily. ScienceDaily, 5 September 2007. <www.sciencedaily.com/releases/2007/08/070831201855.htm>.
Helmholtz Association. (2007, September 5). New Mechanism In Development Of Severe Inherited Disease Discovered. ScienceDaily. Retrieved March 30, 2015 from www.sciencedaily.com/releases/2007/08/070831201855.htm
Helmholtz Association. "New Mechanism In Development Of Severe Inherited Disease Discovered." ScienceDaily. www.sciencedaily.com/releases/2007/08/070831201855.htm (accessed March 30, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Monday, March 30, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Soda, Salt and Sugar: The Next Generation of Taxes

Soda, Salt and Sugar: The Next Generation of Taxes

Washington Post (Mar. 30, 2015) — Denisa Livingston, a health advocate for the Dinι Community Advocacy Alliance, and the Post&apos;s Abby Phillip discuss efforts around the country to make unhealthy food choices hurt your wallet as much as your waistline. Video provided by Washington Post
Powered by NewsLook.com
UnitedHealth Buys Catamaran

UnitedHealth Buys Catamaran

Reuters - Business Video Online (Mar. 30, 2015) — The $12.8 billion merger will combine the U.S.&apos; third and fourth largest pharmacy benefit managers. Analysts say smaller PBMs could also merge. Fred Katayama reports. Video provided by Reuters
Powered by NewsLook.com
S. Leone in New Anti-Ebola Lockdown

S. Leone in New Anti-Ebola Lockdown

AFP (Mar. 28, 2015) — Sierra Leone imposed a three-day nationwide lockdown Friday for the second time in six months in a bid to prevent a resurgence of the deadly Ebola virus. Duration: 01:17 Video provided by AFP
Powered by NewsLook.com
These Popular Antibiotics Can Cause Permanent Nerve Damage

These Popular Antibiotics Can Cause Permanent Nerve Damage

Newsy (Mar. 27, 2015) — A popular class of antibiotic can leave patients in severe pain and even result in permanent nerve damage. Video provided by Newsy
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