| Project/Area Number |
24659495
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Shiga University of Medical Science |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
MATSUI Katsuyuki 滋賀医科大学, 医学部, 助教 (60595924)
MORI Asami 滋賀医科大学, 医学部, 非常勤講師 (70437151)
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2012: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 先天性甲状腺機能低下症 / 次世代シーケンサー / Dual oxidase 2 / DUOX2 / 小児内分泌学 |
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| Research Abstract |
We detected many novel mutations of the thyroid hormone generating genes including dual oxidase 2 (DUOX2), PAX8 and Pendrin (PDS) and so on by the exhaustive analysis of causative genes of congenital hypothyroidism using the next generation sequencer. Furthermore, We performed family analysis and We considered whether the variation that we discovered was the etiology to congenital hypothyroidism and elucidated the hereditary genetic causes.
We identified nine new mutations about DUOX2 and got knowledge to contribution of DUOX2 mutations to elucidate genetic pahtology. In many patients with congenital hypothyroidism, the causative gene could not been detected. But this study showed that DUOX2 defect is one of the main causes of congenital hypothyroidism. In addition, about other genes, we could identify new mutations and obtained the data which contributed to elucidation of genetic causes.
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