CACNA1D是一种昼夜基因,导致家族高级睡眠阶段
John M Webb1,2,3, Fayal Abderemane-Ali4, Liza Ashbrook1
1Department of Neurology, University of California San Francisco, San Francisco, CA 94143.
概括
在CACNA1D的遗传变异导致家族高级睡眠阶段 (FASP),早期睡眠的遗传特征. 这项研究确定了CACNA1D作为人类昼夜调节和睡眠时间的关键基因.
科学领域:
- 遗传学 遗传学 是一个
- 时间生物学 时间生物学
- 分子生物学分子生物学
背景情况:
- 家庭高级睡眠阶段 (FASP) 是一种遗传性疾病,其特点是睡眠和觉醒时间显著提前.
- 了解昼夜节律障碍的遗传基础对于开发向疗法至关重要.
研究的目的:
- 在受影响的家庭中确定家族高级睡眠阶段 (FASP) 的遗传原因.
- 调查CACNA1D中已识别的遗传变异对昼夜节律调节的功能后果.
主要方法:
- 对五个FASP家族进行分离分析,以确定遗传变异.
- 在体外电生理学研究以评估CACNA1D变异的功能影响.
- 开发和分析携带特定CACNA1D变异 (E427K) 的小鼠模型,以研究昼夜表型.
主要成果:
- 在CACNA1D基因中发现了五种不同的变异,并在五个家族中与FASP分离.
- 在体外实验表明,这些CACNA1D变体改变了通道动态.
- 鼠标模型表现出正常的昼夜周期,但在特定的昼夜时间对光的相位转移反应发生变化.
结论:
- 电压通路子单元alpha1 D (CACNA1D) 已被确定为与家族高级睡眠阶段 (FASP) 相关的基因.
- 改变的携带和光响应是FASP与CACNA1D变种相关的关键特征.
- 人类遗传学为对昼夜节律调节的复杂机制提供了新的见解.
相关概念视频
Circadian Rhythms and Gene Regulation
4.2K
The biological clock is involved in many aspects of regulating complex physiology in all animals. It was in 1935 when German zoologists, Hans Kalmus and Erwin Bünning, discovered the existence of circadian rhythm in Drosophila melanogaster. However, the internal molecular mechanisms behind the circadian clock remained a mystery until 1984, when Jeffrey C. Hall, Michael Rosbash, and Michael W. Young discovered the expression of the Per gene oscillating over a 24-hour cycle. In subsequent...
4.2K
Sleep-Wake Cycles
1.6K
Sleep is an essential physiological process vital to maintaining overall well-being. The reticular activating system (RAS), a network of neurons in the brainstem, regulates wakefulness and sleep. While it may seem passive, sleep consists of distinct cycles, each with its unique characteristics and functions. Two key sleep phases are non-rapid eye movement (NREM) and rapid eye movement (REM).
NREM Sleep
NREM sleep comprises four progressive stages that seamlessly merge:
NREM Sleep
NREM sleep comprises four progressive stages that seamlessly merge:
1.6K
Narcolepsy
205
Narcolepsy is a chronic sleep disorder characterized by pervasive, uncontrolled sleepiness and other sleep disturbances. One of its hallmark symptoms is an abrupt transition to REM sleep upon falling asleep, which causes symptoms typically associated with this phase to occur unexpectedly during wakefulness. These include the following symptoms, which typically last from a minute or two to half an hour.
205
Biological Clocks and Seasonal Responses
39.2K
The circadian—or biological—clock is an intrinsic, timekeeping, molecular mechanism that allows plants to coordinate physiological activities over 24-hour cycles called circadian rhythms. Photoperiodism is a collective term for the biological responses of plants to variations in the relative lengths of dark and light periods. The period of light-exposure is called the photoperiod.
39.2K
Chronopharmacokinetics: Circadian Rhythms and Influence on Drug Response
137
Circadian rhythms are cyclic changes that are crucial in plasma drug concentrations. Various standard circadian parameters, including core body temperature, heart rate, and other cardiovascular factors, directly impact disease states and the therapeutic response to drug therapy.
The time of drug administration is an important factor to consider, as it can influence the toxic dose of a drug. For example, a study conducted by Prins et al. in 1997 examined the effects of the timing of...
The time of drug administration is an important factor to consider, as it can influence the toxic dose of a drug. For example, a study conducted by Prins et al. in 1997 examined the effects of the timing of...
137
Management of Insomnia
328
The sleep cycle, an integral part of human health, consists of several stages with distinct characteristics and functions. It begins with a transition from wakefulness to sleep, known as the light sleep phase, followed by the restorative deep sleep phase, essential for physical recovery and growth. The cycle concludes with the Rapid Eye Movement (REM) phase, characterized by high brain activity and vivid dreaming. Insomnia, a prevalent sleep disorder, involves difficulty falling asleep, staying...
328


