| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2015: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2014: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
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| 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.
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