Featured Research

from universities, journals, and other organizations

Molecular anchor links the two inheritable diseases Fanconi anemia and Bloom's syndrome

Date:
January 3, 2010
Source:
Cell Press
Summary:
A new study establishes a molecular link that bridges two rare inherited disorders and explains why these diseases result in genetic instability. The research may lead to a better understanding of the complex mechanisms that enable cells to repair damaged DNA.

A new study establishes a molecular link that bridges two rare inherited disorders and explains why these diseases result in genetic instability. The research, published in the December 24th issue of the journal Molecular Cell, may lead to a better understanding of the complex mechanisms that enable cells to repair damaged DNA.

Fanconi Anemia (FA) and Bloom's Syndrome (BS) are unique rare genetic disorders that have some key characteristics in common. Both FA and BS are associated with disrupted DNA repair mechanisms and an elevated predisposition for cancer. The genetic mutations that cause FA and BS have been identified and, importantly, the genetic mutations associated with both FA and BS affect large molecular complexes composed of several proteins (the FA and BS core complexes) that mediate key DNA repair processes.

"There is strong clinical and biochemical evidence suggesting that FA and BS proteins may act in a common DNA repair pathway," explains study author Dr. Stephen C. West from the London Research Institute. "However, the specific interactions are poorly understood." Dr. West and co-author, Dr. Andrew J. Deans, examined the FA gene FANCM because it has been shown to directly bind to DNA and has been shown to have specificity for substrates that are similar to those linked with the BS core complex.

The researchers identified two regions in the FANCM protein that enabled it to physically link the FA core complex and the BS complex. FA and BS complexes bound independently to FANCM, but not with each other in the absence of FANCM. The researchers went on to show that a disruption of the interaction between the two core complexes and FANCM led to similar chromosomal repair defects representative of both BA and FA cells.

"We have shown for the first time that FANCM acts as a molecular scaffold that functions in a variety of repair reactions and serves as a bridge between FA and BS. The biological and clinical implications of this link are likely to be important in relation to the phenotypes associated with these genetic disorders," explains Dr. West. "Further understanding how these interactions and reactions are regulated should provide a more complete understanding of the molecular basis of FA and BS."

The researchers include Andrew J. Deans and Stephen C. West, of London Research Institute, Cancer Research UK, South Mimms, UK.


Story Source:

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


Cite This Page:

Cell Press. "Molecular anchor links the two inheritable diseases Fanconi anemia and Bloom's syndrome." ScienceDaily. ScienceDaily, 3 January 2010. <www.sciencedaily.com/releases/2009/12/091227212325.htm>.
Cell Press. (2010, January 3). Molecular anchor links the two inheritable diseases Fanconi anemia and Bloom's syndrome. ScienceDaily. Retrieved April 19, 2014 from www.sciencedaily.com/releases/2009/12/091227212325.htm
Cell Press. "Molecular anchor links the two inheritable diseases Fanconi anemia and Bloom's syndrome." ScienceDaily. www.sciencedaily.com/releases/2009/12/091227212325.htm (accessed April 19, 2014).

Share This



More Health & Medicine News

Saturday, April 19, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

'Holy Grail' Of Weight Loss? New Find Could Be It

'Holy Grail' Of Weight Loss? New Find Could Be It

Newsy (Apr. 18, 2014) In a potential breakthrough for future obesity treatments, scientists have used MRI scans to pinpoint brown fat in a living adult for the first time. Video provided by Newsy
Powered by NewsLook.com
Little Progress Made In Fighting Food Poisoning, CDC Says

Little Progress Made In Fighting Food Poisoning, CDC Says

Newsy (Apr. 18, 2014) A new report shows rates of two foodborne infections increased in the U.S. in recent years, while salmonella actually dropped 9 percent. Video provided by Newsy
Powered by NewsLook.com
Scientists Create Stem Cells From Adult Skin Cells

Scientists Create Stem Cells From Adult Skin Cells

Newsy (Apr. 17, 2014) The breakthrough could mean a cure for some serious diseases and even the possibility of human cloning, but it's all still a way off. Video provided by Newsy
Powered by NewsLook.com
Obama: 8 Million Healthcare Signups

Obama: 8 Million Healthcare Signups

AP (Apr. 17, 2014) President Barack Obama gave a briefing Thursday announcing 8 million people have signed up under the Affordable Care Act. He blasted continued Republican efforts to repeal the law. (April 17) 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:
from the past week

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