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 22, 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 22, 2014).

Share This



More Health & Medicine News

Monday, September 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Sierra Leone in Lockdown to Control Ebola

Sierra Leone in Lockdown to Control Ebola

AP (Sep. 21, 2014) Sierra Leone residents remained in lockdown on Saturday as part of a massive effort to confine millions of people to their homes in a bid to stem the biggest Ebola outbreak in history. (Sept. 20) Video provided by AP
Powered by NewsLook.com
Sierra Leone's Nationwide Ebola Curfew Underway

Sierra Leone's Nationwide Ebola Curfew Underway

Newsy (Sep. 20, 2014) Sierra Leone is locked down as aid workers and volunteers look for new cases of Ebola. Video provided by Newsy
Powered by NewsLook.com
Changes Found In Brain After One Dose Of Antidepressants

Changes Found In Brain After One Dose Of Antidepressants

Newsy (Sep. 19, 2014) A study suggest antidepressants can kick in much sooner than previously thought. Video provided by Newsy
Powered by NewsLook.com
Could Grief Affect The Immune Systems Of Senior Citizens?

Could Grief Affect The Immune Systems Of Senior Citizens?

Newsy (Sep. 19, 2014) The study found elderly people are much more likely to become susceptible to infection than younger adults going though a similar situation. 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