2016 Fiscal Year Final Research Report
Systematic Differential Diagnosis for Tubulointerstitial Diseases Based on the Gemome Information
| Project/Area Number |
26461246
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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 |
Kidney internal medicine
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| Research Institution | Kansai Medical University |
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Principal Investigator |
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| Co-Investigator(Renkei-kenkyūsha) |
GOTO Shin 新潟大学, 医歯学系, 准教授 (00463969)
ICHIDA Kimiyoshi 東京薬科大学, 薬学部, 教授 (80183169)
INOUE Itsuro 国立遺伝学研究所, 総合遺伝研究系, 教授 (00192500)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Keywords | 尿細管 / 遺伝子変異 / 腎不全 / ネフロン / シークエンス |
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| Outline of Final Research Achievements |
Tubulo-interstitial diseases play a key role in the pathogenesis of many chronic kidney diseases. These disorders are usually caused by complex interplay between genetic environmental factors, while some are ascribed to monogenic defects. Such Mendelian examples are autosomal-recessive nephronopthisis and autosomal-dominant medullary cystic kidney diseases. Both diseases share a common pathologic feature consisting of tubular atrophy, basement membrane irregularity, and cystic formation, and interstitial fibrosis. This study is aimed to elucidate the molecular causes of adult-onset autosomal dominant tubulointerstitial kidney diseases (ADTKD) and to generate a systematic differential diagnosis schema. Our data indicated that some ADTKD(10-20%) are caused by UMOD mutations. The relevance of MUC1 remains unknown because of the technical difficulty to identify the mutations in the variable number, tandem-repeat region (VNTR).
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| Free Research Field |
腎臓内科学
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