自閉症や統合失調症のリスクを伴うCNVは,コントロールにおける認知に影響を及ぼします
Hreinn Stefansson1, Andreas Meyer-Lindenberg2, Stacy Steinberg3
11] deCODE genetics/Amgen, Sturlugata 8, IS-101 Reykjavík, Iceland [2].
Nature
|December 20, 2013
まとめ
コピー数変種 (CNVs) は,統合失調症と自閉症の病原性に影響を及ぼします. 特定のCNVを携えている個人は,認知機能の変化と生育能力の低下を示し,脳障害の洞察を提供します.
科学分野:
- 遺伝学 遺伝学とは
- 神経科学は神経科学である.
- 精神科医は精神病を患っている.
背景:
- コピー数変種 (CNVs) は,統合失調症と自閉症の病原性に関与しています.
- CNVは,不完全な穿透性による脳の機能と機能不全を研究するためのユニークなモデルを提供します.
研究 の 目的:
- アイスランド人集団における特定のCNVが生育能力と認知機能に与える影響を調査する.
- CNV,認知障害,脳構造との関係を調査する.
主な方法:
- アイスランドのサンプルにおけるCNVの分析.
- 生殖能力の評価 (45歳までの子供).
- 認知機能テストとIQ調整.
- 脳の構造をイメージングする.
主要な成果:
- 特定のCNVは,生殖能力を著しく変化させることが判明しました.
- CNVを携えた個人は,統合失調症患者と対照群の間で認知的にパフォーマンスを発揮しました.
- 15q11.2 (((BP1-BP2) 削除は,IQとは独立して,不読症と不計算症と関連していました.
- 削除キャリアの脳の構造の変化は,統合失調症と難読症の脳の構造変化を反映した.
結論:
- CNVは,神経発達障害における重要な遺伝因子である.
- CNVに関連した認知欠陥は多様で,疾患の病原性に影響します.
- 15q11.2 ((BP1-BP2) 削除は,特定の認知領域と脳の構造に影響を及ぼし,ディスレクシアと精神病に関連しています.
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