ミトコンドリアにおけるA12308Gポリモルフィズムを有する患者の脳卒中のリスク増加
Lancet (London, England)
|January 6, 2001
まとめ
ミトコンドリアのtRNA ((Leu ((CUN)) 遺伝子の特定の遺伝子変種であるA12308Gは,MELAS症候群を引き起こすA3243G変異を有する個人に脳卒中のリスクを大幅に増加させます. この発見は,MELAS脳卒中リスク要因を理解するのに役立ちます.
科学分野:
- 遺伝学 遺伝学とは
- 神経学 神経学とは
- ミトコンドリア疾患
背景:
- ミトコンドリアDNAのA3243G変異は,MELAS (ミトコンドリア脳髄膜病,乳酸酸化,脳卒中) 症候群と関連しています.
- MELAS患者の脳卒中リスクを高める正確な要因は,まだ完全に理解されていません.
- 以前の研究では,ミトコンドリアのtRNA (Leu (CUN)) 遺伝子の突然変異が,肺がん細胞におけるA3243G突然変異の生化学的効果を変化させることが示されていた.
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