在慢性病中失去Y染色体和心血管事件
Michael Weyrich1, Sebastian Cremer2,3, Martin Gerster4
11Goethe University Frankfurt's University Hospital, Department of Internal Medicine 4, Nephrology (T.S., S.R.P., M.G., T.S., M.W.).
Circulation
|July 15, 2024
概括
在患有慢性病的男性中,Y染色体的 mozaic 损失与较高的死亡率和心力衰竭有关. 这一发现确定了这一患者群体中心血管不良结果的关键风险因素.
科学领域:
- 肝脏病学
- 心脏病学
- 遗传学
背景情况:
- 慢性病 (CKD) 是心血管疾病的主要危险因素,特别是心力衰竭,死亡率高.
- 实验研究表明Y染色体的马赛克损失与雄性小鼠的心脏纤维化有关.
- 心脏纤维化是心力衰竭进展的常见途径.
研究的目的:
- 在男性慢性瘤患者中,研究Y染色体 (LOY) 马赛克损失与死亡率和心血管疾病结局之间的联系.
- 确定LOY是否可以识别患有心脏不良事件风险较高的患者.
主要方法:
- 在男性患有稳定的CKD (CARE for HOMe研究,n=279) 和透析患者 (4D研究,n=544) 中量化LOY.
- 评估了LOY与死亡率,结合心血管和心力衰竭特异性终点,以及心声回声测量之间的关联.
主要成果:
- 在这两组患者中,LOY> 17%显著与全因死亡率增加和心力衰竭事件的风险增加有关.
- 患有LOY> 17%的患者表现出排泄分数的下降和心肌纤维化标志物的增加 (溶解性互白素1类似受体1).
- 机理学见解表明,在LOY患者中,单细胞C-C化学因子受体2型表达的增加可能导致心力衰竭.
结论:
- 在男性慢性瘤患者中,Y染色体的马赛克损失 (LOY) 是死亡率和心力衰竭事件的重要预测因素.
- LOY可以识别患有心血管不良结果的高风险男性CKD患者,包括心力衰竭.
相关概念视频
01:43Sex-linked Disorders
101.9K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
101.9K
02:19The Y Chromosome Determines Maleness
6.6K
The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
6.6K
01:35Pedigree Analysis
84.2K
Overview
84.2K
02:32X and Y Chromosomes
25.8K
Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
25.8K
01:19X-linked Traits
54.8K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
54.8K
01:20Exercise and Cardiovascular Response
775
Exercise significantly impacts cardiovascular response, which is crucial for understanding patient health and designing effective treatment plans.
Light to moderate physical activity initiates a series of interconnected responses in the body. The heart rate modestly increases in anticipation of the workout, followed by widespread vasodilation as oxygen consumption by skeletal muscles increases. This results in decreased peripheral resistance, increased capillary blood flow, and accelerated...
Light to moderate physical activity initiates a series of interconnected responses in the body. The heart rate modestly increases in anticipation of the workout, followed by widespread vasodilation as oxygen consumption by skeletal muscles increases. This results in decreased peripheral resistance, increased capillary blood flow, and accelerated...
775