A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.

ABSTRACT: Revertant mosaicism, or "natural gene therapy", is the phenomenon in which germline mutations are corrected by somatic events. In recent years, revertant mosaicism has been identified in all major types of epidermolysis bullosa, the group of heritable blistering disorders caused by mutations in the genes encoding epidermal adhesion proteins. Moreover, revertant mosaicism appears to be present in all patients with a specific subtype of recessive epidermolysis bullosa. We therefore hypothesized that revertant mosaicism should be expected at least in all patients with recessive forms of epidermolysis bullosa. Naturally corrected, patient-own cells are of extreme interest for their promising therapeutic potential, and their presence in all patients would open exciting, new treatment perspectiv

SUBMITTER: van den Akker PC 

PROVIDER: S-EPMC5823395 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature