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KAKEN_17K09890seika.pdf
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:Mar 5, 2021 |
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| Title |
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体細胞モザイシズムを呈する原発性アルドステロン症の病変・病型形成機構の解明
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タイサイボウ モザイシズム オ テイスル ゲンパツセイ アルドステロンショウ ノ ビョウヘン・ビョウケイ ケイセイ キコウ ノ カイメイ
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Taisaibō mozaishizumu o teisuru genpatsusei arudosuteronshō no byōhen byōkei keisei kikō no kaimei
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Mechanisms for development of culprit lesions in primary aldosteronism that exhibits somatic mosaicism
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向井, 邦晃
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ムカイ, クニアキ
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Mukai, Kuniaki
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慶應義塾大学・医学部 (信濃町) ・講師
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Research team head
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科研費研究者番号 : 80229913
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西本, 紘嗣郎
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ニシモト, コウシロウ
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Nishimoto, Kōshirō
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埼玉医科大学・医学部・准教授
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Research team member
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科研費研究者番号 : 00365363
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2020
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科学研究費補助金研究成果報告書
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2019
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本課題は、アルドステロン産生病変を遺伝子変異による組織モザイクと捉え、副腎皮質が正常構造・機能から逸脱して、原発性アルドステロン症の病変形成に至る分子基盤の理解を目的した。アルドステロン産生腺腫に体細胞変異として検出される変異を先天的に持った若年性原発性アルドステロン症の症例について、腫瘍部および非腫瘍部の遺伝子解析をおこなった結果、腫瘍部にセカンドヒットと推定される体細胞変異を同定した。
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.
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研究種目 : 基盤研究 (C) (一般)
研究期間 : 2017～2019
課題番号 : 17K09890
研究分野 : 内分泌学
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