| Project/Area Number |
07457404
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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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 |
ISHIDA Takashi Jichi Medical School, Dept.of Otolaryngology,, 医学部, 講師 (10151375)
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| Co-Investigator(Kenkyū-buntansha) |
TAMAGAWA Yuya Jichi Medical School, Dept.of Otolaryngology,, 医学部, 助手 (10285794)
KITAMURA Ken Jichi Medical School, Dept.of Otolaryngology, Professor, 医学部, 教授 (90010470)
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| Project Period (FY) |
1995 – 1997
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| Project Status |
Completed (Fiscal Year 1997)
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| Budget Amount *help |
¥3,100,000 (Direct Cost: ¥3,100,000)
Fiscal Year 1997: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 1996: ¥800,000 (Direct Cost: ¥800,000)
Fiscal Year 1995: ¥1,200,000 (Direct Cost: ¥1,200,000)
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| Keywords | myosin 7A / hereditary hearing loss / inner ear / human gnome / 進行性難聴 / 感音難聴 / 常染色体優性遺伝 / 連鎖解析 / ミオシン / ミトコンドリアDNA / MELAS / 特発性両側性感音難聴 / 母系遺伝 / ミトコンドリア遺伝子 / 糖尿病 |
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| Research Abstract |
Pathophysiology of sensorineural hearing impairment which is a common clinical disorder remains yet to be determined. However, some genes responsible for sensorineural hearing impairment have been cloned for the last several years and the mechanism causing hearing impairment has been started to be clarified with the advent of development of molecular genetics. We studied the candidate genes for sensorineural hearing impairment.
The present study mapped the DFNA11 locus by the linkage analysis of a Japanses family and identified mutations in MYO7A in the DFNA11 family. This result showed that various mutations in MYO7A (molecular motor) can lead to both non-syndromic dominant and recessive forms of hearing loss as well as syndromic Usher syndrome. The present data demonstrated that MYO7A can be responsible for a wide range of hearing impairment and that further screening of non-syndromic sensorineural hearing impairment for mutations in the MYO7A is importnat.
We also demonstrated that a point mutation at nucleotide 1555 of mitochondrial DNA can be responsible for idiopathic hearing impairment.
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