Research Project
Grant-in-Aid for Scientific Research (C)
This study aims at understanding the molecular basis for formation of culprit lesions of primary aldosteronism, which exhibits somatic mosaicism developed from a normal adrenal. Using a tumor-bearing adrenal, which was excised from a primary aldosteronism patient carrying a germline mutation of KCNJ5, an additional mutation was identified from the tumor portion but not from the nontumor portions. The result suggests that the secondary mutation caused the rapid growth of the tumor.
近年アルドステロン産生腺腫にイオンチャネル・ポンプ遺伝子群の体細胞変異が報告され病変形成への関与が示された。しかし、これらの遺伝子変異が腫瘍形成にどのように関与するのか不明であった。本研究では、ファーストヒットである変異を先天的に持った副腎にセカンドヒットとして体細胞変異が生じることにより腫瘍化することが示唆された。本成果は原発性アルドステロン症の病変形成機構の一端を示す。
All 2020 2019 2018 2017
All Journal Article (8 results) (of which Int'l Joint Research: 4 results, Peer Reviewed: 6 results, Open Access: 6 results) Presentation (6 results) (of which Int'l Joint Research: 4 results, Invited: 1 results) Book (1 results)
Endocrinology
Volume: 161 Issue: 3
10.1210/endocr/bqaa007
IJU Case Reports
Volume: - Issue: 3 Pages: 158-161
10.1002/iju5.12068
The Journal of Steroid Biochemistry and Molecular Biology
Volume: 191 Pages: 105361-105361
10.1016/j.jsbmb.2019.04.010
Current Opinion in Nephrology and Hypertension
Volume: 28 Issue: 2 Pages: 105-112
10.1097/mnh.0000000000000487
臨床泌尿器科
Volume: 72(6) Pages: 410-415
Sci. Rep.
Volume: 7 Issue: 1 Pages: 11205-11205
10.1038/s41598-017-11435-2
120006460362
J Endocrine Soc
Volume: 1 Issue: 8 Pages: 1056-1061
10.1210/js.2017-00210
血圧
Volume: 24 Pages: 861-968