Allele-specific sirna corrects aberrant cellular phenotype in keratitis-ichthyosis-deafness syndrome keratinocytes

Keratitis-ichthyosis-deafness (KID) syndrome is a severe, untreatable condition characterized by ocular, auditory and cutaneous abnormalities, with major complications of infection and skin cancer. 86% of cases are caused by a heterozygous missense mutation (c.148G>A, p.D50N) in the GJB2 gene, encoding gap junction protein connexin 26 (Cx26), which alters gating properties of Cx26 channels in a dominant manner. We hypothesized that a mutant-allele-specific siRNA (AS-siRNA) could rescue the cellular phenotype in patient keratinocytes.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Original Article Source Type: research