Mechanism of hearing loss in Pendred syndrome model knock-in mouse

2015 Fiscal Year Final Research Report

• Project/Area Number: 25861521
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Otorhinolaryngology
• Research Institution: Tohoku University
• Principal Investigator: NOMURA Kazuhiro 東北大学, 医学(系)研究科(研究院), 非常勤講師 (60466563)
• Project Period (FY): 2013-04-01 – 2016-03-31
• Keywords: Pendred症候群 / 遺伝難聴 / 内耳生理 / 頭部外傷 / 音響外傷 / 加齢

Outline of Final Research Achievements

Pendred syndrome is a genetic disorder associated with hearing loss and thyroid hypertrophy. It inherits in autosomal recessive manner. Mutation of slc26a4 is the cause of Pendred syndrome. There is no treatment option for Pendred syndrome so far. In human Pendred syndrome patients, hearing is preserved in young age but deteriorates after adolescence. We speculated that analyzing not defect but point mutation of slc26a4 is the best way in animal model study. We used H723R point mutation, which is the most prevalent mutation in Japanese population, knock-in mouse to study the mechanism of hearing loss in Pendred syndrome. At the age of four weeks, there was no significant difference in hearing between wild type and knock-in mice after severe head trauma and noise exposure.

Free Research Field

内耳