Featured Research

from universities, journals, and other organizations

Why Only Some Cystic Fibrosis Patients Respond To Treatments That Prevent The Generation Of Truncated Proteins

Date:
February 22, 2007
Source:
Journal of Clinical Investigation
Summary:
Individuals with the genetic lung disorder cystic fibrosis (CF) lack any functional CFTR protein because their genes that encode this protein carry a mutation. One mutation (the W1282X mutation) that results in CF does so because it causes the cellular machinery that converts the initial product of a gene (mRNA) into a functional protein to prematurely stop making CFTR protein. Agents (such as gentamicin) that enable the protein-generating machinery to ignore such mutations have shown benefit in some, but not all, CF patients with the W1282X mutation.

Individuals with the genetic lung disorder cystic fibrosis (CF) lack any functional CFTR protein because their genes that encode this protein carry a mutation. One mutation (the W1282X mutation) that results in CF does so because it causes the cellular machinery that converts the initial product of a gene (mRNA) into a functional protein to prematurely stop making CFTR protein. Agents (such as gentamicin) that enable the protein-generating machinery to ignore such mutations have shown benefit in some, but not all, CF patients with the W1282X mutation.

Related Articles


In a study that appears online on February 8 in advance of publication in the March print issue of the Journal of Clinical Investigation, researchers from The Hebrew University of Jerusalem, Israel, describe a potential molecular explanation for the distinct responsiveness of patients with Cf to treatment with gentamicin.

Batsheva Kerem and colleagues found that CF patients with the W1282X mutation who responded to treatment with gentamicin expressed more nonsense CFTR mRNA than patients who did not respond to treatment.

Further analysis showed that different cell lines from CF patients with the W1282X mutation had distinct abilities to destroy nonsense mRNA. Inhibiting the destruction of nonsense mRNA in these cell lines increased the amount of nonsense CFTR mRNA present, making them more susceptible to the ability of gentamicin to induce the production of functional CFTR protein.

This study suggests that the ability of an individual’s affected cells to destroy nonsense mRNA determines how responsive CF patients with the W1282X mutation are likely to be to treatment with gentamicin. Such observations might also extend to other genetic disorders in which mutations causing the cellular machinery to prematurely stop making protein have been identified, such as Duchenne muscular dystrophy.


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. "Why Only Some Cystic Fibrosis Patients Respond To Treatments That Prevent The Generation Of Truncated Proteins." ScienceDaily. ScienceDaily, 22 February 2007. <www.sciencedaily.com/releases/2007/02/070208230638.htm>.
Journal of Clinical Investigation. (2007, February 22). Why Only Some Cystic Fibrosis Patients Respond To Treatments That Prevent The Generation Of Truncated Proteins. ScienceDaily. Retrieved December 17, 2014 from www.sciencedaily.com/releases/2007/02/070208230638.htm
Journal of Clinical Investigation. "Why Only Some Cystic Fibrosis Patients Respond To Treatments That Prevent The Generation Of Truncated Proteins." ScienceDaily. www.sciencedaily.com/releases/2007/02/070208230638.htm (accessed December 17, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Wednesday, December 17, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

UN: Up to One Million Facing Hunger in Ebola-Hit Countries

AFP (Dec. 17, 2014) Border closures, quarantines and crop losses in West African nations battling the Ebola virus could lead to as many as one million people going hungry, UN food agencies said on Wednesday. Duration: 00:52 Video provided by AFP
Powered by NewsLook.com
When You Lose Weight, This Is Where The Fat Goes

When You Lose Weight, This Is Where The Fat Goes

Newsy (Dec. 17, 2014) Can fat disappear into thin air? New research finds that during weight loss, over 80 percent of a person's fat molecules escape through the lungs. Video provided by Newsy
Powered by NewsLook.com
Flu Outbreak Closing Schools in Ohio

Flu Outbreak Closing Schools in Ohio

AP (Dec. 17, 2014) A wave of flu illnesses has forced some Ohio schools to shut down over the past week. State officials confirmed one pediatric flu-related death, a 15-year-old girl in southern Ohio. (Dec. 17) Video provided by AP
Powered by NewsLook.com
Yoga Could Be As Beneficial For The Heart As Walking, Biking

Yoga Could Be As Beneficial For The Heart As Walking, Biking

Newsy (Dec. 17, 2014) Yoga can help your weight, blood pressure, cholesterol and heart just as much as biking and walking does, a new study suggests. 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