2006 Fiscal Year Final Research Report Summary
Analysis on genetic factors specific to Japanese population in deafness due to mitochondrial mutations.
| Project/Area Number |
17591813
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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 | National Hospital Organization National Tokyo Medical Center National Institute of Sensory Organs |
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Principal Investigator |
MATSUNAGA Tatsuo National Hospital Organization National Tokyo Medical Center National Institute of Sensory Organs, Division of Hearing and Balance Research, Laboratory of Auditory Disorders, Chief, 聴覚・平衡覚研究部聴覚障害研究室, 室長 (90245580)
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| Co-Investigator(Kenkyū-buntansha) |
FUJINAMI Yoshiaki National Hospital Organization National Tokyo Medical Center National Institute of Sensory Organs, Division of Hearing and Balance Research, Laboratory of Auditory Disorders, Researcher, 聴覚・平衡覚研究部聴覚障害研究室, 研究員 (80392801)
MUTAI Hideki National Hospital Organization National Tokyo Medical Center National Institute of Sensory Organs, Division of Hearing and Balance Research, Laboratory of Auditory Disorders, Researcher, 聴覚・平衡覚研究部聴覚障害研究室, 研究員 (60415891)
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| Project Period (FY) |
2005 – 2006
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| Keywords | MITOCHONDRIA / HEREDITARY HEARING LOSS / DNA / 遺伝子解析 |
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| Research Abstract |
There has been no study on the prevalence of deafness related mutations in the mitochondrial DNA as a whole in Japanese deaf patients. In order to clarify this question, we set out to analyze deafness genes in the mitochondrial DNA in 53 subjects with congenital hearing loss, 76 subjects with late-onset hearing loss, and 144 subjects with normal hearing. In the analysis on homoplasmy mutations, mutations which have been reported to be associated with deafness in the international data base were detected in 8 of 53 subjects with congenital hearing loss and 4 of 76 subjects with late-onset hearing loss. In the analysis on heteroplasmy mutations, deafness related mutations were detected in 7 of 53 subjects with congenital hearing loss and 7 of 76 subjects with late-onset hearing loss. In the analysis on normal hearing controls, 11 of 144 subjects had deafness related mutations in 12S rRNA gene and none of 144 subjects had deafness related mutations in the other 4 genes. These results indicate that environmental factors are involved in the occurrence of hearing loss in addition to mutations in the mitochondrial DNA in Japanese population or these mutations are not pathogenic in this population. Therefore, there seems to be significant difference in mitochondrial genetic factors associated with hearing loss in the international data base and those in Japanese population. The data reported in this study should be consulted for further clarification of genetic factors involved in the deafness in Japanese population as well as for the genetic testing in the diagnosis of deafness.
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