2型糖尿病の変種は,2つの異なるメカニズムを通してSLC16A11の機能を乱します
Victor Rusu1, Eitan Hoch2, Josep M Mercader3
1Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Cell
|July 1, 2017
まとめ
SLC16A11の遺伝子変異は,ラテン系アメリカ人の2型糖尿病 (T2D) リスクの増加を説明します. この遺伝子は
科学分野:
- 遺伝学
- 代謝 疾患
- 分子生物学
背景:
- 2型糖尿病 (T2D) はラテン系住民に不釣り合いな影響を与えている.
- SLC16A11で以前に特定されたリスクハプロタイプは,メキシコのT2Dの流行に大きく貢献しています.
研究 の 目的:
- SLC16A11のT2Dリスクハプロタイプを細かくマッピングする.
- SLC16A11変種がT2Dリスクに影響を与える機能的メカニズムを解明する.
主な方法:
- 遺伝子の詳細なマッピングで 原因の変異を特定します
- SLC16A11発現とタンパク質機能に対する変異の影響を評価する.
- 細胞代謝におけるSLC16A11の役割を調査する.
主要な成果:
- SLC16A11内の密接に関連した変異のセットは,おそらく因果的であると定義された.
- T2Dに関連した変異はSLC16A11の肝臓発現を低下させ,バシジンとの相互作用を妨げます.
- SLC16A11は,陽子結合モノカルボキシラートトランスポーターとして特定されました.
- 脂肪酸と脂質代謝のSLC16A11機能の変化は,T2Dリスクと関連しています.
結論:
- SLC16A11は,この場所の因果遺伝子であり,機能の低下によりT2Dのリスクが増加します.
- SLC16A11機能を高めるための治療戦略はT2D患者にとって有益である.
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