Structural basis for pathogenic variants of GJB2 and hearing levels of patients with hearing loss.

ABSTRACT:

Objectives

The crystal structure of the six protomers of gap junction protein beta 2 (GJB2) enables prediction of the effect(s) of an amino acid substitution, thereby facilitating investigation of molecular pathogenesis of missense variants of GJB2. This study mainly focused on R143W variant that causes hearing loss, and investigated the relationship between amino acid substitution and 3-D structural changes in GJB2.

Methods

Patients with nonsyndromic hearing loss who appeared to have two GJB2 pathogenic variants, including the R143W variant, were investigated. Because the X-ray crystal structure of the six protomers of the GJB2 protein is known, R143W and structurally related variants of GJB2 were modeled using this crystal structure as a template. The wild-type crystal str

SUBMITTER: Namba K 

PROVIDER: S-EPMC11083831 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature