昼夜时钟基因PER2和PER3的变异与家族睡眠阶段障碍有关
Laura Plavc1,2, Cene Skubic2, Leja Dolenc Grošelj1,3
1Institute of Clinical Neurophysiology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Chronobiology international
|May 2, 2024
概括
昼夜钟基因PER3和PER2中的遗传变异与分别晚期和晚期睡眠阶段障碍有关. 这项研究确定了这些极端时型的潜在遗传原因,有助于临床诊断.
科学领域:
- 遗传学 遗传学 是一个
- 睡眠医学 睡眠医学
- 时间生物学 时间生物学
背景情况:
- 循环时钟的干扰是延迟睡眠阶段障碍 (DSPD) 和晚期睡眠阶段障碍 (ASPD) 的基础.
- 遗传病因,特别是DSPD,仍然不清楚.
- 极端的早晚时间类型是这些疾病的关键特征.
研究的目的:
- 调查斯洛文尼亚队列中极端时型的遗传基础.
- 评估基因定型昼夜钟基因是否可以帮助诊断睡眠阶段障碍.
- 为了确定与DSPD和ASPD相关的特定遗传变异.
主要方法:
- 招募了15名极端时刻型 (13晚,2早) 患者和28名对照.
- 利用早晚问卷进行时间型评估.
- 采用桑格测序来分析CSNK1D,PER2/3和CRY1基因中的候选单核酸多态 (SNP).
主要成果:
- 在患有ASPD和家族病史的患者中,鉴定了PER3基因 (c.1243C>G,c.1250A>G) 中的两个异合体误解变异.
- 这些PER3变体与ASPD有显著的联系,并且存在于试验者的父亲身上.
- 在DSPD患者的父母中发现了一种具有自体主导遗传的新型PER2变异 (c.1901-218G>T).
结论:
- 两个PER3变异与自体主导ASPD有关.
- 一种新型的PER2变体代表了罕见的遗传形式的DSPD,具有自体主导遗传.
- 生物钟基因的基因定型可以揭示睡眠阶段障碍的遗传因果关系.
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