Degeneration of saccular hair cells caused by MITF gene mutation.

Affiliation

Beijing Key Laboratory of Hearing Impairment Prevention and Treatment, Key Laboratory of Hearing Impairment Science, Chinese PLA Medical School, Beijng, China. [Email]

Abstract

Waardenburg syndrome (WS) is the consequence of an inherited autosomal dominant mutation which causes the early degeneration of intermediate cells of cochlear stria vascularis (SV) and profound hearing loss. Patients with WS may also experience primary vestibular symptoms. Most of the current WS studies did not discuss the relationship between WS and abnormal vestibular function. Our study found that a spontaneous mutant pig showed profound hearing loss and depigmentation. MITF-M, a common gene mutation causes type WS which affect the development of the intermediate cell of SV, was then identified for animal modeling.

Keywords

Cochleosaccular degeneration,Hearing loss,Intermediate cell,MITF-M,Pig,Waardenburg syndrome,