一个新的时钟正在运行多发性髓瘤:循环时钟蛋白质期3 (PER-3) 多态性
I Serin1, S Pehlivan2, I Demir3
1Department of Hematology, Istanbul Training and Research Hospital, University of Health Sciences, Istanbul, Turkey.
Balkan journal of medical genetics : BJMG
|June 2, 2023
概括
PER-3基因多态性影响了多发性骨髓瘤患者的生存率. 5R/5R基因型与更长的无进展生存时间有关,而4R/4R基因型与更短的生存时间有关.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 时间生物学 时间生物学
背景情况:
- 位于1p36.23染色体上的PERIOD 3 (PER-3) 基因表现出多态性,具有4或5个并列重复副本.
- PER-3 基因多态性与免疫系统失调有关.
- 了解PER-3昼夜基因在多发性骨髓瘤 (MM) 中的作用对于治疗策略至关重要.
研究的目的:
- 在多发性骨髓瘤患者中研究PER-3基因多态的分布和临床影响.
- 评估PER-3基因型与患者生存结果之间的关联,包括总生存率 (OS) 和无进展生存率 (PFS).
主要方法:
- 一项涉及150名MM患者和100名健康对照者的病例控制研究.
- 在开始治疗之前,对PER-3基因进行了基因定型.
- 基因型分布的统计比较和分析PER-3对治疗后的OS和PFS的影响,包括自身干细胞移植 (ASCT) 和维持疗法 (LD).
主要成果:
- 5R/5R基因型显示出较长的中位数无进展生存期 (PFS) 的趋势,达到86% (p = 0.046).
- 具有4R/4R基因型的患者的PFS中位数显著较短,为40.4个月 (p = 0.026).
- 4R/4R基因型与较短的PFS风险增加了2.049倍 (p = 0.009).
结论:
- 这项研究揭示了PER-3基因多态性对多发性髓瘤中PFS的净效应.
- 在MM患者中,PER-3基因多态,特别是4R/4R基因型,显著影响了无进展的生存率.
- 这些发现为未来研究关于昼夜基因参与MM预后和治疗的研究提供了基础.
相关概念视频
Circadian Rhythms and Gene Regulation
4.1K
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...
4.1K
Abnormal Proliferation
4.6K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.6K
Histone Variants at the Centromere
4.4K
Histone variants are the histone proteins with structural and sequence variations. These variants may be regarded as “mutant” forms that replace their canonical histone counterparts in the nucleosomes. Specific post-translational modifications on the histone variants enable further chromatin complexity and regulate tissue-specific gene expression. The most common histone variants are from histone H2A, H2B, and linker histone H1 families. However, several variants of histone H3...
4.4K
Biological Clocks and Seasonal Responses
34.8K
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.
34.8K


