Research in the improvement in diagnostic accuracy for primary ciliary dyskinesia
| Project/Area Number |
25462662
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Otorhinolaryngology
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| Research Institution | Mie University |
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Principal Investigator |
TAKEUCHI Kazuhiko 三重大学, 医学(系)研究科(研究院), 教授 (50206942)
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| Co-Investigator(Kenkyū-buntansha) |
KITANO Masako 三重大学, 医学部附属病院, 助教 (20378334)
FUJISAWA Takao 独立行政法人国立病院機構三重病院(臨床研究部), 小児科・アレルギー科, 院長 (20511140)
NAKATANI Kaname 三重大学, 医学部附属病院, 教授 (80237304)
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| Research Collaborator |
OGAWA Satoru
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | 線毛 / 遺伝子変異 / 電子顕微鏡 / 一酸化窒素 / 常染色体劣性遺伝 / 滲出性中耳炎 / 慢性副鼻腔炎 / 気管支拡張症 / 遺伝子 |
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| Outline of Final Research Achievements |
The diagnosis of primary ciliary dyskinesia (PCD) requires the presence of the characteristic clinical phenotypes and either: 1) specific ciliary ultrastructural defects identified by transmission electron microscopy; or 2) identification of mutation in one of the genes known to be associated with PCD. The diagnosis of PCD is not easy. We have identified ciliary ultrastuructual defects in ten out of 21 PCD suspected patients, by assessing about 100 cilia per patient before reaching a diagnosis. Moreover, we have conducted genetic analysis in 21 patients with suspicion of PCD and found disease causing mutations in four patients. The analysis of their genomic DNA revealed compound heterozygous mutations in DNAH5 in one patient, homozygous mutations in DNAI1 in two siblings, and heterozygous missense mutation in DNAH1 in one patient. Although these four mutations we found were from known PCD causing genes, all the four were novel mutations and probably unique to Japanese populations.
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Report
(3 results)
Research Products
(11 results)
