赋予自闭症或精神分裂症风险的CNVs会影响对照者的认知
Hreinn Stefansson1, Andreas Meyer-Lindenberg2, Stacy Steinberg3
11] deCODE genetics/Amgen, Sturlugata 8, IS-101 Reykjavík, Iceland [2].
Nature
|December 20, 2013
概括
副本数变异 (CNVs) 显著影响精神分裂症和自闭症病原体. 携带特定CNV的个体表现出改变的认知功能和降低的生育能力,为大脑疾病提供了洞察力.
科学领域:
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
- 精神病学是一个精神病学.
背景情况:
- 副本数变异 (CNVs) 涉及到精神分裂症和自闭症的病变发生.
- CNVs提供了一个独特的模型来研究由于不完全穿透而导致的大脑功能和功能障碍.
研究的目的:
- 调查特定的CNV对冰岛人口生育能力和认知功能的影响.
- 探索 CNV,认知缺陷和大脑结构之间的关系.
主要方法:
- 在冰岛样本中分析CNV.
- 评估生育能力 (45岁前的儿童).
- 认知功能测试和智商调整.
- 大脑结构成像.
主要成果:
- 发现某些CNV显著改变了生育能力.
- 携带CNV的个体在精神分裂症患者和对照人群之间进行认知.
- 15q11.2 ((BP1-BP2) 删除与智商独立的阅读障碍和计算障碍有关.
- 删除载体中的大脑结构变化反映了精神分裂症和阅读障碍症中的变化.
结论:
- CNVs是神经发育障碍的重要遗传因素.
- 与CNV相关的认知缺陷各不相同,影响疾病的发病性.
- 15q11.2 ((BP1-BP2) 删除会影响特定的认知领域和大脑结构,与阅读障碍和精神病相关.
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