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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.

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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


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


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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 January 28, 2015 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 January 28, 2015).

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