Syndromic Deafness Gene ATP6V1B2 Controls Degeneration of Spiral Ganglion Neurons Through Modulating Proton Flux.

ABSTRACT: ATP6V1B2 encodes the V1B2 subunit in V-ATPase, a proton pump responsible for the acidification of lysosomes. Mutations in this gene cause DDOD syndrome, DOORS syndrome, and Zimmermann-Laband syndrome, which share overlapping feature of congenital sensorineural deafness, onychodystrophy, and different extents of intellectual disability without or with epilepsy. However, the underlying mechanisms remain unclear. To investigate the pathological role of mutant ATP6V1B2 in the auditory system, we evaluated auditory brainstem response, distortion product otoacoustic emissions, in a transgenic line of mice carrying c.1516 C > T (p.Arg506^∗) in Atp6v1b2, Atp6v1b2 ^{Arg506*/Arg506*} . To explore the pathogenic mechanism of neurodegeneration in the audit

SUBMITTER: Qiu S 

PROVIDER: S-EPMC8568048 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature