2002 Fiscal Year Final Research Report Summary
Detection of New Locus Associated with Nonsyndromic Hearing Loss by Linkage Analysis
| Project/Area Number |
13671796
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Otorhinolaryngology
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| Research Institution | Jichi Medical School |
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Principal Investigator |
ISHIKAWA Kazuhiro Jichi Medical School, Assistant, 医学部, 助手 (40296083)
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| Co-Investigator(Kenkyū-buntansha) |
NISHINO Hiroshi Jichi Medical School, Assistant Professor, 医学部, 講師 (50245057)
TANAKA Hidetaka Jichi Medical School, Assistant, 医学部, 助手 (50296109)
ISHIKAWA Kotaro Jichi Medical School, Assistant, 医学部, 助手 (60347987)
ICHIMURA Keiichi Jichi Medical School, Professor, 医学部, 教授 (00010471)
OHATA Yasushi Jichi Medical School, Assistant Professor, 医学部, 講師 (40251285)
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| Project Period (FY) |
2001 – 2002
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| Keywords | Hereditary Hearing Loss / Mitochondrial DNA / T7511C Mutation / 7472insC Mutation / GJB2 / MYO7A |
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| Research Abstract |
We identified a Japanese family with nonsnydromic hearing loss harboring the T7511C mutation in the mitochondrial tRNA^<Ser(UCN)> gene, which is, to our knowledge, the second reported family with this mutation. In histological findings, there was severe degeneration of spiral ganglion cells throughout the cochlea.
In the second study, we identified a Japanese family with the 7472insC mutation in the mitochondrial tRNA^<Ser(UCN)> gene, which is the first reported family in Asia. These reports showed that families with maternally transmitted nonsydromic hearing loss should be investigated for mutations in the tRNA^<Ser(UCN)> gene.
The third report showed that the phenotype of DFNA11 is postlingual, nosyndromic sensorineural hearing loss with gradual progression. The DFNA11 phenotype is mildest among phenotypes caused by MYO7A mutations.
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