Research on clinical feature and onset mechanism of deafness caused by mitochondrial DNA mutations

2017 Fiscal Year Final Research Report

• 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
• 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.

Free Research Field

耳鼻咽喉科学　耳科学