家族性高コレステロール血症の原因遺伝子別系統的病態解析

Material type: 文書・図像類

Author: 川尻, 剛照ほか

Publisher: 金沢大学医薬保健研究域医学系

Publication date: 2012-05-16

Material Format: Digital

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Note (General)：: 常染色体劣性高コレステロール血症のLDL異化率は正常者に比し75%低下し、VLDLの直接異化率は著明に亢進していた。スタチンによりLDL異化率は正常化し、VLDL直接異化率は上昇した。PCSK9遺伝子異常ホモ接合体のLDL異化率は正常者に比し52%低下し、VLDL合成率、VLDL直接異化率はいずれも...

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https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-21591160/

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Material Type: 文書・図像類
Title: 家族性高コレステロール血症の原因遺伝子別系統的病態解析
Author/Editor: 川尻, 剛照
Kawashiri, Masaaki
Author Heading: 川尻, 剛照
Kawashiri, Masaaki
Publication, Distribution, etc.: 金沢大学医薬保健研究域医学系
Publication Date: 2012-05-16
Publication Date (W3CDTF): 2012-05-16
Alternative Title: Systematic Analysis of Pathophysiology of Familial Hypercholesterolemia Due to Different Causal Gene Mutations
Periodical title: 平成23(2011)年度科学研究費補助金基盤研究(C) 研究成果報告書 = 2011 Fiscal Year Final Research Report
No. or year of volume/issue: 2009-2011
Volume: 2009-2011
Pages: 6p.-
Text Language Code: jpn
Subject Heading: 脂質代謝異常
家族性高コレステロール血症
安定同位体
Target Audience: 一般
Note (General): 常染色体劣性高コレステロール血症のLDL異化率は正常者に比し75%低下し、VLDLの直接異化率は著明に亢進していた。スタチンによりLDL異化率は正常化し、VLDL直接異化率は上昇した。PCSK9遺伝子異常ホモ接合体のLDL異化率は正常者に比し52%低下し、VLDL合成率、VLDL直接異化率はいずれも亢進していた。スタチンによりLDL異化率は正常化したが、VLDL合成率、直接異化率は不変であった。
The fractional catabolic rate(FCR) of low-density lipoprotein(LDL) apolipoprotein B(apoB) in a patient with autosomal recessive hypercholesterolemia(ARH) was 75% smaller, whereas direct removal of very-LDL apoB was dramatically greater compared with those of normal control subjects. Statin therapy normalized FCR of LDL apoB and increased direct removal of very-LDL in ARH patient. On the other hand, the FCR of patients with homozygous proprotein convertase subtilisin/kexin 9(PCSK9) gene mutation was 52% smaller than that of normal control subjects and normalized by statin therapy. Whereas, both production rate and direct removal of very-LDL was increased compared with those of normal control subjects, which were not changed by statin therapy.
研究課題/領域番号:21591160, 研究期間(年度):2009-2011
出典：研究課題「家族性高コレステロール血症の原因遺伝子別系統的病態解析」課題番号21591160（KAKEN：科学研究費助成事業データベース（国立情報学研究所））（https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-21591160/21591160seika/）を加工して作成
DOI: 10.24517/00050952
Access Restrictions: 限定公開
Related Material: https://kaken.nii.ac.jp/search/?qm=90345637
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-21591160/
https://kaken.nii.ac.jp/report/KAKENHI-PROJECT-21591160/21591160seika/
Data Provider (Database): 国立情報学研究所 : 学術機関リポジトリデータベース（IRDB）（機関リポジトリ）
https://irdb.nii.ac.jp
Original Data Provider (Database): 金沢大学 : 金沢大学学術情報リポジトリKURA