表观遗传/生理时钟和PCOS
Camille Vatier1,2, Sophie Christin-Maitre1,3
1Department of Endocrine and Reproductive Medicine, Center of Endocrine Rare Diseases of Growth and Development (CRESCENDO), FIRENDO, Endo-ERN, Hôpital Saint-Antoine, Assistance-Publique-Hôpitaux de Paris, Sorbonne University, Paris, France.
Human reproduction (Oxford, England)
|April 11, 2024
概括
表观遗传变化和昼夜钟基因干扰可能导致多囊性卵巢综合征 (PCOS) 的发展. 了解这些因素可能会导致PCOS的新诊断和治疗策略.
科学领域:
- 内分泌学和遗传学 在内分泌学和遗传学
- 生殖医学 生殖医学
- 表观遗传学和时间生物学
背景情况:
- 多囊性卵巢综合征 (PCOS) 影响6-20%的女性,与代谢综合征,2型糖尿病,心血管疾病和子宫内膜癌症有关.
- 遗传学研究仅解释了PCOS遗传率的10%左右,表明其病因与其他因素有关.
- 表观遗传变化和昼夜钟基因修改越来越被认为是PCOS病原体的潜在贡献者.
研究的目的:
- 审查表观遗传变化和昼夜钟基因修饰在多囊性卵巢综合征 (PCOS) 的发展中的作用.
- 探索表观遗传修饰作为诊断生物标志物和PCOS治疗点的潜力.
主要方法:
- 对PCOS和相关疾病中的表观遗传变化 (DNA甲基化,基因组修饰,非编码RNA) 现有文献的审查.
- 对表观遗传编程在PCOS类表型中显示的动物模型的分析.
- 检查人类研究报告的表观遗传变化在各种组织 (PBMC,脂肪,GC,肝脏) 患有PCOS的妇女.
主要成果:
- 在患有PCOS的女性中观察到表观遗传变化,包括全球低甲基化和特定基因甲基化变化.
- 这些表观遗传变化会影响参与荷尔蒙调节,炎症和新陈代谢的基因.
- 在患有PCOS的女性中,人们注意到昼夜钟基因表达的干扰,与睡眠障碍相关.
结论:
- 表观遗传修饰和昼夜节律障碍是PCOS病变发生的潜在关键因素.
- 对表观遗传生物标志物来说,区分原因和后果仍然是一个挑战.
- 针对表观遗传修改为PCOS治疗提供了精准医学方法的潜力,等待在大型队列中进行进一步研究.
相关概念视频
Circadian Rhythms and Gene Regulation
4.0K
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...
4.0K
Oogenesis
63.7K
In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
63.7K
Hormonal Control of the Ovarian Cycle
476
The ovarian cycle is meticulously regulated by the hypothalamic-pituitary-gonadal axis. This cycle orchestrates the release of a mature oocyte, essential for reproduction.
Before puberty, the hypothalamus releases GnRH in a low frequency, low amplitude pulsatile manner. This along with the immature hypothalamic-pituitary-gonadal axis activity, results in low estrogen levels and the absence of a fully functional ovarian cycle. At puberty, GnRH secretion increases in both frequency and...
Before puberty, the hypothalamus releases GnRH in a low frequency, low amplitude pulsatile manner. This along with the immature hypothalamic-pituitary-gonadal axis activity, results in low estrogen levels and the absence of a fully functional ovarian cycle. At puberty, GnRH secretion increases in both frequency and...
476
Epigenetic Regulation
3.0K
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
X-chromosome...
3.0K
Hormonal Regulation of the Menstrual Cycle
347
The ovarian cycle regulates endometrial changes throughout a single menstrual cycle via the coordinated action of gonadotrophin-releasing hormone (GnRH) and gonadotrophins.
At puberty, GnRH begins a pulsatile release pattern, which triggers the anterior pituitary gland to secrete follicle-stimulating hormone (FSH) and luteinizing hormone (LH). The frequency and amplitude of GnRH pulses vary across the menstrual cycle, with faster pulses favoring LH release and slower pulses favoring FSH...
At puberty, GnRH begins a pulsatile release pattern, which triggers the anterior pituitary gland to secrete follicle-stimulating hormone (FSH) and luteinizing hormone (LH). The frequency and amplitude of GnRH pulses vary across the menstrual cycle, with faster pulses favoring LH release and slower pulses favoring FSH...
347
Biological Clocks and Seasonal Responses
34.6K
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.
34.6K


