PNPLA3变异和脏疾病
Alessandro Mantovani1, Giovanni Targher2,3
1Section of Endocrinology, Diabetes and Metabolism, Department of Medicine, University and Azienda Ospedaliera Universitaria Integrata of Verona, Verona, Italy.
概括
PNPLA3 rs738409 G等位基因与功能恶化和慢性病 (CKD) 风险增加有关. 这种遗传变异可能直接影响脏健康或间接通过代谢功能障碍相关的脂肪性肝病 (MASLD).
科学领域:
- 遗传学 是一个遗传学.
- 腎臟病學 (nephrology) 是一種醫學專業.
- 肝病学 肝病学是一种肝病学.
背景情况:
- PNPLA3 rs738409 G等位基因是MASLD的强有力的遗传风险因素.
- 该等位基因也与不同年龄组的功能受损有关,并且独立于其他危险因素.
研究的目的:
- 审查关于PNPLA3 rs738409 G等位基因与CKD风险之间的关联的流行病学数据.
- 探索将PNPLA3与脏疾病联系起来的潜在生物机制.
- 讨论临床影响,以识别有风险的个体.
主要方法:
- 现有流行病学研究的叙述性小综述.
- 对细胞中PNPLA3表达的实验证据的讨论.
- 对PNPLA3,MASLD和CKD之间遗传联系的当前知识的综合.
主要成果:
- 强有力的流行病学证据将PNPLA3 rs738409 G等位基因与功能受损和CKD风险增加联系起来.
- PNPLA3在细胞中表达,这表明它可能在病理学中发挥直接作用.
- 该协会可能部分通过MASLD的发展和进展进行调解.
结论:
- PNPLA3 rs738409 G等位基因是CKD的重要风险因素,可能通过直接脏影响或MASLD.
- 确定PNPLA3基因型可能有助于对CKD和高级MASLD风险进行分层.
- 需要进一步的研究,以充分阐明机制和临床效用.
关键词:
在CKD中,它是最好的.马斯尔德 马斯尔德是什么意思这是一种PNPLA3蛋白.慢性脏疾病 慢性脏疾病脏疾病 脏疾病代谢功能障碍与相关的脂肪肝炎.与代谢功能障碍相关的脂肪性肝病.含有3个帕塔类脂酶域的帕塔类脂酶域.更多相关视频
09:40Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells
Published on: June 20, 2018
17.5K
08:46Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium
Published on: September 1, 2015
9.8K
相关概念视频
01:10Nephrons
2.3K
The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma...
2.3K
01:20Renal Corpuscle
1.9K
The glomerulus and Bowman's capsule are two essential components of the nephron, which is the functional unit of the kidney. These microscopic structures play a critical role in the process of blood filtration to produce urine.
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous...
1.9K
01:24Renal Tubule and Collecting Duct
911
The renal tubule is divided into three parts: the proximal convoluted tubule (PCT), the Loop of Henle (LOH), and the distal convoluted tubule (DCT).
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
911
01:17Factors Affecting Renal Clearance: Renal Impairment
81
Renal dysfunction significantly impairs the renal clearance of drugs, leading to potential complications in drug therapy. Renal failure, which can be caused by various factors, poses a significant challenge in the elimination of drugs from the body.
One condition associated with renal failure is uremia. Uremia is characterized by impaired glomerular filtration and fluid accumulation in the body. This condition hinders the renal clearance of drugs, resulting in drug accumulation and potential...
One condition associated with renal failure is uremia. Uremia is characterized by impaired glomerular filtration and fluid accumulation in the body. This condition hinders the renal clearance of drugs, resulting in drug accumulation and potential...
81
01:28Glomerular Filtration Rate and its Regulation
2.6K
The Glomerular Filtration Rate (GFR) is a measure of kidney function, reflecting the volume of filtrate formed per minute in the kidneys. On average, GFR is approximately 125 mL/min in males and 105 mL/min in females. Maintaining a relatively constant GFR is essential for the kidneys to effectively regulate body fluid homeostasis and maintain extracellular stability.
GFR regulation involves two primary intrinsic controls: the myogenic and tubuloglomerular feedback mechanisms.
The myogenic...
GFR regulation involves two primary intrinsic controls: the myogenic and tubuloglomerular feedback mechanisms.
The myogenic...
2.6K
01:11Renal Failure: Dose Adjustments
80
In patients with renal impairment, drugs undergo significant changes in their pharmacokinetics, which require dosage adjustments to ensure safe and effective therapy.
Reduced renal clearance and elimination rate are common outcomes of renal impairment. These alterations lead to a prolonged elimination half-life and an altered apparent volume of distribution for drugs. As a result, dosage adjustments are typically necessary to maintain optimal drug levels in the body.
However, dosage adjustments...
Reduced renal clearance and elimination rate are common outcomes of renal impairment. These alterations lead to a prolonged elimination half-life and an altered apparent volume of distribution for drugs. As a result, dosage adjustments are typically necessary to maintain optimal drug levels in the body.
However, dosage adjustments...
80