相关实验视频

Updated: Jul 5, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

SLC2A9 rs16890979 降低了脏器官的尿酸吸收

Shouhai Wu^1,2, Chuang Li^1,2,3, Yizhen Li^1,4

¹State Key Laboratory of Dampness Syndrome of Chinese Medicine, The Second Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, China.

Frontiers in cell and developmental biology

|January 25, 2024

概括

器官检测结果显示,SLC2A9 rs16890979单核酸多态 (SNP) 降低了尿酸 (UA) 的吸收. 这一发现为研究UA代谢和相关的损伤机制提供了一个模型.

科学领域:

腎臟病學 (nephrology) 是一種醫學.
遗传学遗传学是一个
干细胞生物学干细胞生物学

背景情况:

脏尿酸 (UA) 的再吸收,主要由管中的GLUT9 (编码由SLC2A9) 介导,对于血清UA平衡至关重要.
SLC2A9的遗传变异与血清UA水平的改变有关,但由于缺乏合适的体外模型,功能性研究受到限制.
了解特定的SLC2A9单核酸多态 (SNPs) 对UA传输的影响,对于阐明高尿血和相关病理的机制至关重要.

研究的目的:

开发和利用基因编辑的人类胚胎干细胞衍生的器官模型,以研究SLC2A9 rs16890979 SNP对尿酸代谢的功能影响.
建立基因改变SLC2A9表达 (过度表达和敲击) 的对照器官,以验证GLUT9在UA吸收中的作用.
探索与改变UA处理相关的损伤的潜在细胞生物学机制.

主要方法:

基因编辑的人类胚胎干细胞-9 (ESC-H9) 衍生器官的构建,携带RS16890979突变的SLC2A9.9.
基因诱导的过度表达 (OE) 和短毛RNA (shRNA) 介导的SLC2A9.9中断的对照器官的生成.
通过将工程器官暴露在含有UA的介质中,对UA吸收的功能评估,然后进行基因病理学分析.

主要成果:

具有异或同突变的器官表现出正常的SLC2A9表达和组织学分布,类似于野生类型对照.
在携带rs16890979突变的器官中观察到UA吸收的显著减少,这表明GLUT9功能受损.
在GLUT9过度表达的有机体中UA的吸收增加,在GLUT9敲击的有机体中减少,这证实了GLUT9在UA吸收中的作用.
甲状腺-介质细胞过渡 (EMT) 是由UA治疗诱导的,特别是在GLUT9过度表达的有机体中,这表明UA相关的损伤机制.

结论:

在SLC2A9中的rs16890979 SNP损害了管的尿酸吸收功能.
来自ESC-H9的器官为研究UA载体SNP的功能后果提供了有价值的体外模型.
这种模型有助于对脏组织学,细胞和分子机制的研究,这些机制是UA代谢障碍和相关脏疾病的基础.

关键词:

这就是CRISPR/Cas9的作用.在SLC2A9/GLUT9中.超血症是什么意思过高的血糖含量会导致高血糖含量.脏有机物脏有机物尿酸是什么尿酸是什么尿酸是什么

更多相关视频

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells

Isolation, Characterization, And High Throughput Extracellular Flux Analysis of Mouse Primary Renal Tubular Epithelial Cells

Published on: June 20, 2018

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer

Author Spotlight: Genetic Profiling for Fluorouracil Response in Gastric Cancer

Published on: May 10, 2024

相关概念视频

Glucose Transporters

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:

Lysosomal Hydrolases

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...

Pleiotropy

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...