Featured Research

from universities, journals, and other organizations

Deficiency In The Protein MBL2 Linked To Increased Cystic Fibrosis Severity

Date:
February 25, 2008
Source:
Journal of Clinical Investigation
Summary:
Although it is known that mutations in the CFTR gene cause the hereditary disorder cystic fibrosis disease, variations in other genes between individuals with CF modify the severity of the disease. New data has now clearly established that genetic variations that modify MBL2 expression are associated with more severe clinical symptoms of CF.

Cystic fibrosis (CF), a hereditary disorder causing thick mucous production and frequent lung infections, is associated with a high mortality rate primarily due to lung failure.

Although it is known that mutations in the CFTR gene cause the disease, variations in other genes between individuals with CF modify the severity of the disease. For example, the gene responsible for making the MBL2 protein has been suggested to modify lung function in individuals with CF; however, its precise roles in the disease have not been well understood.

In a new study, Julian Zielenski and his colleagues at the Hospital for Sick Children, Toronto, found that genetic variations that modify MBL2 expression were associated with more severe clinical symptoms of CF.

The researchers compared levels of MBL2 in the blood of more than 1,000 CF patients and found that patients deficient in MBL2 were often younger when first infected with the bacteria Pseudomonas aeruginosa, and that their lung function declined more rapidly than patients with normal or high levels of the protein.

These associations between MBL2 and CF severity were even more pronounced in patients that overproduced the protein TGF-beta-1. The authors argue that these findings might provide a basis for new approaches for treating those individuals with CF who are at risk of such increased disease severity.

In an accompanying commentary, Frank Accurso and Marci Sontag at the University of Colorado Denver further suggest that it might be useful to screen for gene variants that cause the production of high levels of MBL2 and TGF-beta-1, as well as other genes that modify the course of CF, in newborn CF screening.

Journal reference: Complex two-gene modulation of lung disease severity in children with cystic fibrosis. Journal of Clinical Investigation. February 21, 2008.


Story Source:

The above story is based on materials provided by Journal of Clinical Investigation. Note: Materials may be edited for content and length.


Cite This Page:

Journal of Clinical Investigation. "Deficiency In The Protein MBL2 Linked To Increased Cystic Fibrosis Severity." ScienceDaily. ScienceDaily, 25 February 2008. <www.sciencedaily.com/releases/2008/02/080221183334.htm>.
Journal of Clinical Investigation. (2008, February 25). Deficiency In The Protein MBL2 Linked To Increased Cystic Fibrosis Severity. ScienceDaily. Retrieved September 16, 2014 from www.sciencedaily.com/releases/2008/02/080221183334.htm
Journal of Clinical Investigation. "Deficiency In The Protein MBL2 Linked To Increased Cystic Fibrosis Severity." ScienceDaily. www.sciencedaily.com/releases/2008/02/080221183334.htm (accessed September 16, 2014).

Share This



More Health & Medicine News

Tuesday, September 16, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

President To Send 3,000 Military Personnel To Fight Ebola

President To Send 3,000 Military Personnel To Fight Ebola

Newsy (Sep. 16, 2014) President Obama is expected to send 3,000 troops to West Africa as part of the effort to contain Ebola's spread. Video provided by Newsy
Powered by NewsLook.com
Man Floats for 31 Hours in Gulf Waters

Man Floats for 31 Hours in Gulf Waters

AP (Sep. 16, 2014) A Texas man is lucky to be alive after he and three others floated for more than a day in the Gulf of Mexico when their boat sank during a fishing trip. (Sept. 16) Video provided by AP
Powered by NewsLook.com
EU Ministers and Experts Meet to Discuss Ebola Reponse

EU Ministers and Experts Meet to Discuss Ebola Reponse

AFP (Sep. 15, 2014) The European Commission met on Monday to coordinate aid that the EU can offer to African countries affected by the Ebola outbreak. Duration: 00:58 Video provided by AFP
Powered by NewsLook.com
Despite The Risks, Antibiotics Still Overprescribed For Kids

Despite The Risks, Antibiotics Still Overprescribed For Kids

Newsy (Sep. 15, 2014) A new study finds children are prescribed antibiotics twice as often as is necessary. 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:
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