Research on clinical feature and onset mechanism of deafness caused by mitochondrial DNA mutations
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.
|
Report
(4 results)
Research Products
(3 results)
-
[Journal Article] A rational approach to identifying newborns with hearing loss caused by congenital cytomegalovirus infection by dried blood spot screening.2018
Author(s)
Moteki H, Isaka Y, Inaba Y, Motobayashi M, Nishio SY, Ohira S, Yano T, Iwasaki S, Shiozawa T, Koike K, Usami SI.
-
Journal Title
Acta Otolaryngol.
Volume: 1
Issue: 8
Pages: 708-712
DOI
Related Report
Peer Reviewed / Int'l Joint Research
-
-