Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes.

ABSTRACT: Revertant mosaicism (RM) is the intriguing phenomenon in which nature itself has successfully done what medical science is so eagerly trying to achieve: correcting the effect of disease-causing germline variants and thereby reversing the disease phenotype back to normal. RM was molecularly confirmed for the first time in a genodermatosis in 1997, the genetic skin condition junctional epidermolysis bullosa (EB). At that time, RM was considered an extraordinary phenomenon. However, several important discoveries have changed this conception in the past few decades. First, RM has now been identified in all major subtypes of EB. Second, RM has also been identified in many other genodermatoses. Third, a theoretical mathematical exercise concluded that reverse mutations should be expected in all

SUBMITTER: van den Akker PC 

PROVIDER: S-EPMC9495737 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature