Featured Research

from universities, journals, and other organizations

An 'unconventional' path to correcting cystic fibrosis

Date:
September 5, 2011
Source:
Cell Press
Summary:
Researchers have identified an unconventional path that may correct the defect underlying cystic fibrosis, according to a new study. This new treatment dramatically extends the lives of mice carrying the disease-associated mutation.

Researchers have identified an unconventional path that may correct the defect underlying cystic fibrosis, according to a report in the September 2nd issue of the journal Cell, a Cell Press publication. This new treatment dramatically extends the lives of mice carrying the disease-associated mutation.

Related Articles


Cystic Fibrosis is caused by a mutation in a gene responsible for the transport of ions across cell membranes. This gene encodes a protein channel, called the cystic fibrosis transmembrane conductance regulator or CFTR, that is normally found on the surfaces of cells lining the airway and intestine. In patients with the disease, the channels don't make it from inside cells to their surfaces along the standard path. As a result ions and fluids fail to move in and out of cells as they should, causing mucus build-up and chronic lung infections.

The new study identifies an unexpected way to send the mutant proteins to the surface where they can restore ion transport. A protein normally localized to membranes inside cells, called GRASP65, is co-opted to escort mutant CFTR channels to the cell surface by following a "detour" route.

"Many have searched for the so-called CFTR correctors that can aid the surface expression of mutant CFTR through conventional trafficking," said Min Goo Lee, senior author of this study. Some molecules have shown promise in the laboratory, but none have led to the development of commercially available therapies so far.

"In this study, we discovered that CFTR surface trafficking can be rescued by an alternative route that former investigators had not expected."

Mice carrying the cystic fibrosis-linked mutation typically live for less than 3 months. In those that produce higher levels of GRASP65, only 1 out of 20 of the CFTR-mutant mice died in those first 3 months. Importantly, the transport of ions by CFTR in the animals' intestinal lining was also restored to more than 60 percent of the level seen in normal, healthy mice.

The findings may ultimately have real treatment implications for those with cystic fibrosis or other genetic diseases stemming from problems with the transport of proteins that are folded incorrectly.

"We made a small step in understanding cell biology," Lee says. "We hope this could turn out to be a giant leap in future clinical medicine, especially for treating human genetic diseases."

In the U.S., cystic fibrosis is the most common deadly inherited disorder, according to PubMed Health. One in 29 Caucasian Americans carry the cystic fibrosis mutation, and those with two copies of the mutant gene will develop the disease.


Story Source:

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


Journal Reference:

  1. Heon Yung Gee, Shin Hye Noh, Bor Luen Tang, Kyung Hwan Kim, Min Goo Lee. Rescue of ΔF508-CFTR Trafficking via a GRASP-Dependent Unconventional Secretion Pathway. Cell, 2011; 146 (5): 746-760 DOI: 10.1016/j.cell.2011.07.021

Cite This Page:

Cell Press. "An 'unconventional' path to correcting cystic fibrosis." ScienceDaily. ScienceDaily, 5 September 2011. <www.sciencedaily.com/releases/2011/09/110901134638.htm>.
Cell Press. (2011, September 5). An 'unconventional' path to correcting cystic fibrosis. ScienceDaily. Retrieved December 20, 2014 from www.sciencedaily.com/releases/2011/09/110901134638.htm
Cell Press. "An 'unconventional' path to correcting cystic fibrosis." ScienceDaily. www.sciencedaily.com/releases/2011/09/110901134638.htm (accessed December 20, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Saturday, December 20, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

The Best Tips to Curb Holiday Carbs

The Best Tips to Curb Holiday Carbs

Buzz60 (Dec. 19, 2014) It's hard to resist those delicious but fattening carbs we all crave during the winter months, but there are some ways to stay satisfied without consuming the extra calories. Vanessa Freeman (@VanessaFreeTV) has the details. Video provided by Buzz60
Powered by NewsLook.com
Sierra Leone Bikers Spread the Message to Fight Ebola

Sierra Leone Bikers Spread the Message to Fight Ebola

AFP (Dec. 19, 2014) More than 100 motorcyclists hit the road to spread awareness messages about Ebola. Nearly 7,000 people have now died from the virus, almost all of them in west Africa, according to the World Health Organization. Video provided by AFP
Powered by NewsLook.com
Researchers Test Colombian Village With High Alzheimer's Rates

Researchers Test Colombian Village With High Alzheimer's Rates

AFP (Dec. 19, 2014) In Yarumal, a village in N. Colombia, Alzheimer's has ravaged a disproportionately large number of families. A genetic "curse" that may pave the way for research on how to treat the disease that claims a new victim every four seconds. Duration: 02:42 Video provided by AFP
Powered by NewsLook.com
The Best Protein-Filled Foods to Energize You for the New Year

The Best Protein-Filled Foods to Energize You for the New Year

Buzz60 (Dec. 19, 2014) The new year is coming and nothing will energize you more for 2015 than protein-filled foods. Fitness and nutrition expert John Basedow (@JohnBasedow) gives his favorite high protein foods that will help you build muscle, lose fat and have endless energy. Video provided by Buzz60
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