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2022 Fiscal Year Final Research Report

16S rRNA-based metagenomic analysis of the microbiota in chronic airway infection observed in primary ciliary dyskinesia and its clinical significance

Research Project

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Project/Area Number 20K08532
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 53030:Respiratory medicine-related
Research Institution公益財団法人結核予防会 結核研究所

Principal Investigator

Keicho Naoto  公益財団法人結核予防会 結核研究所, 副所長, 副所長 (80332386)

Co-Investigator(Kenkyū-buntansha) 土方 美奈子  公益財団法人結核予防会 結核研究所, 生体防御部, 部長 (90332387)
森本 耕三  公益財団法人結核予防会 結核研究所, 抗酸菌部 細菌科, 研究員 (40511879)
Project Period (FY) 2020-04-01 – 2023-03-31
Keywords原発性線毛機能不全症候群 / 鼻腔NO測定 / 遺伝子検査 / 電子顕微鏡検査 / 副鼻腔気管支症候群 / 不妊
Outline of Final Research Achievements

Primary ciliary dyskinesia (PCD) is a rare genetic disorder mainly caused by abnormalities of the structural and functional components of motile cilia. A large deletion of the DRC1 gene accounts for about half of the PCD cases in Japan. Because of the disruption of mucociliary clearance in the airway epithelium, PCD is associated with chronic airway infection, and elucidation of its pathogenesis is important for the control of the disease. In this study, amplicon-based microbiome analyses of bacterial and fungal flora in the sputum samples from PCD patients revealed the diversity and distribution of microbiota in their lower respiratory tract; bacteria that were characteristic of DRC1-deficient cases are expected to contribute to future understanding of the pathogenesis of the disease in Asian countries.

Free Research Field

呼吸器病学

Academic Significance and Societal Importance of the Research Achievements

2019年に我々の研究チームが見出したDRC1大規模欠失アレルは、日本人の主要なPCD原因変異であるだけでなく、最近、韓国からも同様な報告が見られる。このDRC1遺伝子異常によるPCDの詳細な病態解析は、アジアに見られる慢性上下気道感染症の病態解明、診断、治療に大きく貢献し、今後、遺伝子検査を含む早期診断体制の確立、患者や家族に対する適切な遺伝カウンセリング、さらに難病指定による医療費の助成、新規治験の推進などの施策を後押しするものと期待される。

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Published: 2024-01-30  

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