Gene dosage manipulation alleviates manifestations of hereditary <i>PAX6</i> haploinsufficiency in mice
Behnam Rabiee, Khandaker N. Anwar, Xiang Shen, Ilham Putra, Mingna Liu, Rebecca Jung, Neda Afsharkhamseh, Mark I. Rosenblatt, Gerald A. Fishman, Xiaorong Liu, Mahmood Ghassemi, Ali R. Djalilian
Abstract
) with topical or systemic MEK inhibitor PD0325901 led to increased corneal PAX6 expression, improved corneal morphology, reduced corneal opacity, and enhanced ocular function. These results suggest that induction of the wild-type allele by drug repurposing is a potential therapeutic strategy for haploinsufficiencies, which is not limited to specific mutations.
Topics & Concepts
HaploinsufficiencyPAX6AlleleHeterozygote advantageGeneMedicineGeneticsBiologyPhenotypeTranscription factorCell Adhesion Molecules ResearchDevelopmental Biology and Gene RegulationCellular Mechanics and Interactions