Clinical characteristics and hearing impairment in carriers of the m.3243 A > G variant.

ABSTRACT: The m.3243 A > G mitochondrial DNA variant is a major pathogenic variant associated with various clinical phenotypes, including hearing impairment and diabetes. This study retrospectively analyzed clinical data from 37 patients with the m.3243 A > G variant to clarify the relationship between clinical characteristics and hearing loss. Most patients developed post-lingual, late-onset sensorineural hearing loss (SNHL), with flat-type audiometric configurations being the most common. Blood heteroplasmy levels were negatively correlated with age at genetic testing (R² = 0.6303), and age-adjusted heteroplasmy levels were inversely associated with age at onset of hearing loss (p = 0.029). A significant difference in clinical characteristics was observed between patients with hearing loss and/or

SUBMITTER: Uehara N 

PROVIDER: S-EPMC12948675 | biostudies-literature | 2026 Mar

REPOSITORIES: biostudies-literature