Biochemistry of connexins for the ionic homeostasis in cochlea

Abstract

GJB2 gene mutation is most frequent cause for hereditary deafness. GJB2 encodes connexin26 (Cx26), a component in cochlear gap junction. To elucidate the molecular pathway for the gap junction dysfunction, biochemical analysis of gap junction plaques (GJPs) with multiple Cx26 mutant mouse models are needed. Recently, we demonstrated a biochemical pathogenesis caused by abnormal cochlear GJPs with GJB2 mutations using two different mouse models. This machinery can be a new target for drag design of hereditary deafness.