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: Ming Yang Lee, Hong-Zhan Wang, Thomas W. White, Tony Brooks, Alan Pittman, Heerni Halai, Anastasia Petrova, Diane Xu, Stephen L. Hart, Veronica A. Kinsler, Wei-Li Di Tags: Original Article Source Type: research
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