Featured Research

from universities, journals, and other organizations

One Genetic Mutation Heals Another In Blistering Skin Disease

Date:
May 7, 2007
Source:
Journal of Clinical Investigation
Summary:
Mutations in the laminin beta 3 (LAMB3) gene cause the blistering skin disease epidermolysis bullosa (EB). Scientists describe two unrelated patients with junctional EB who underwent revertant mosaicism, a spontaneously occurring process in which mutations at second sites within the LAMB3 gene in skin cells known as keratinocytes were capable of correcting the inherited mutation, restoring LAMB3 protein expression to normal, and triggered areas of previously affected skin to return to a clinically healthy state.

Mutations in the laminin beta 3 (LAMB3) gene cause the blistering skin disease epidermolysis bullosa (EB). In the May 1st issue of the Journal of Clinical Investigation, Marcel Jonkman and colleagues from the University of Groningen in The Netherlands describe 2 unrelated patients with junctional EB who underwent revertant mosaicism, a spontaneously occurring process in which mutations at second sites within the LAMB3 gene in skin cells known as keratinocytes were capable of correcting the inherited mutation, restoring LAMB3 protein expression to normal, and triggered areas of previously affected skin to return to a clinically healthy state.

The presence of the patients' own naturally corrected keratinocytes opens up the possibility of applying revertant cell therapy to other individuals with EB caused by LAMB3 mutations.

In an accompanying commentary, Jorge Frank and Rudolf Happle from Maastricht University and Philipp University, respectively, suggest that, in the future, skin grafts from areas of an EB patient's own normal-appearing skin could be transplanted to affected skin regions on the same patient (after first removing the affected skin).

This approach would avoid triggering immune reactions that are often responsible for graft rejection. Alternatively, in LAMB3 revertant mosaic patients, the patient's own naturally corrected skin cells could be isolated and increased in number using special laboratory techniques and then used for grafting. Frank and Happle conclude that "this encouraging report is just the beginning of a new era in which laboratory researchers and clinicians will intensify their efforts to develop and improve strategies of gene therapy for potentially fatal skin diseases."

Article: Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3


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. "One Genetic Mutation Heals Another In Blistering Skin Disease." ScienceDaily. ScienceDaily, 7 May 2007. <www.sciencedaily.com/releases/2007/05/070504141124.htm>.
Journal of Clinical Investigation. (2007, May 7). One Genetic Mutation Heals Another In Blistering Skin Disease. ScienceDaily. Retrieved September 3, 2014 from www.sciencedaily.com/releases/2007/05/070504141124.htm
Journal of Clinical Investigation. "One Genetic Mutation Heals Another In Blistering Skin Disease." ScienceDaily. www.sciencedaily.com/releases/2007/05/070504141124.htm (accessed September 3, 2014).

Share This



More Health & Medicine News

Wednesday, September 3, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Snack Attack: Study Says Action Movies Make You Snack More

Snack Attack: Study Says Action Movies Make You Snack More

Newsy (Sep. 2, 2014) You're more likely to gain weight while watching action flicks than you are watching other types of programming, says a new study published in JAMA. Video provided by Newsy
Powered by NewsLook.com
U.N. Says Ebola Travel Restrictions Will Cause Food Shortage

U.N. Says Ebola Travel Restrictions Will Cause Food Shortage

Newsy (Sep. 2, 2014) The U.N. says the problem is two-fold — quarantine zones and travel restrictions are limiting the movement of both people and food. Video provided by Newsy
Powered by NewsLook.com
Doctors Fear They're Losing Battle Against Ebola

Doctors Fear They're Losing Battle Against Ebola

AP (Sep. 2, 2014) As a third American missionary is confirmed to have contracted Ebola in Liberia, doctors on the ground in West Africa fear they're losing the battle against the outbreak. (Sept. 2) Video provided by AP
Powered by NewsLook.com
Tech Giants Bet on 3D Headsets for Gaming, Healthcare

Tech Giants Bet on 3D Headsets for Gaming, Healthcare

AFP (Sep. 2, 2014) When Facebook acquired the virtual reality hardware developer Oculus VR in March for $2 billion, CEO Mark Zuckerberg hailed the firm's technology as "a new communication platform." Duration: 02:24 Video provided by AFP
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