Project/Area Number |
15K20199
|
Research Category |
Grant-in-Aid for Young Scientists (B)
|
Allocation Type | Multi-year Fund |
Research Field |
Otorhinolaryngology
|
Research Institution | Shinshu University |
Principal Investigator |
Yano Takuya 信州大学, 医学部附属病院, 特任研究員 (10511058)
|
Research Collaborator |
USAMI Shin-ichi 信州大学, 学術研究院医学系, 教授 (10184996)
NISHIO Shin-ya 信州大学, 学術研究院医学系, 助教 (70467166)
|
Project Period (FY) |
2015-04-01 – 2018-03-31
|
Project Status |
Completed (Fiscal Year 2017)
|
Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2017: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2016: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
|
Keywords | 難聴 / 遺伝子 / ミトコンドリア |
Outline of Final Research Achievements |
causative mitochondrial DNA (mtDNA) mutations have been found in 50% of patients with postlingual nonsyndromic hearing loss. In this study, we performed DNA sequencing analysis of whole mitochondrial genome for 400 unrelated Japanese hearing loss patients. As a result, we obtained the mutation spectrum and frequency of mitochondrial mutations in Japanese hearing loss patients and we also clarified clinical feature of each mitochondrial mutations. m.1555A>G mutation was preferentially observed in late onset mild to moderate hearing loss cases, whereas, m.3243A>G mutation was observed among wide range of clinical phenotype patients. In addition, we also established cell line from mitochondrial mutation patient and analyzed its function.
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