Bong Jik Kim

Abstract Mitochondrial DNA (mtDNA) mutations are a major cause of sensorineural hearing loss (SNHL). The m.1555A >G mutation in the mitochondrial 12S rRNA gene is closely linked to nonsyndromic and aminoglycoside-induced hearing loss, leading to impaired oxidative phosphorylation (OXPHOS) and ATP production. Current treatments focus on auditory rehabilitation without addressing mitochondrial pathology. This study investigated mitochondrial transplantation as a therapeutic approach.

This study recruited nine participants from a hearing loss family whose pedigree indicated an X-linked recessive mode of inheritance. The participants underwent comprehensive phenotypic assessments, including medical history interviews, physical examinations, imaging, and audiological evaluations. ANSD can be diagnosed when the ABR is absent or abnormal while OAE or CMs remain normal, indicating intact OHC function [17, 18].

CDH23 mutations have mostly been associated with prelingual severe-to-profound sensorineural hearing loss (SNHL) in either syndromic or nonsyndromic SNHL (DFNB12). Herein, we demonstrate the contribution of CDH23 mutations to postlingual nonsyndromic SNHL (NS-SNHL). We screened 32 Korean adult probands with postlingual NS-SNHL sporadically or in autosomal recessive fashion using targeted panel or whole exome sequencing.