如何点燃火灾:自身炎症疾病的遗传学
Jiahui Zhang1, Pui Y Lee2, Ivona Aksentijevich3
1Life Sciences Institute, Zhejiang University, Hangzhou, China.
Annual review of genetics
|August 10, 2023
概括
系统性自身炎症性疾病 (SAID) 是由于天生的免疫系统过度激活而产生的. 遗传学的发现显著提高了对这些复杂疾病及其炎症途径的理解.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 系统性自身炎症性疾病 (SAID) 是一组多样化的疾病,其特点是异常的先天免疫系统激活.
- 已经确定了50多种单一的SAID,从家族地中海热开始.
- 免疫学和基因组学最近的进展大大提高了对SAID病原学的理解.
研究的目的:
- 为获得的全身性自身炎症性疾病提供遗传视角.
- 总结SAIDs的临床特征和炎症机制.
- 提供对自身炎症性疾病病原发生的全面了解.
主要方法:
- 关于SAIDs的遗传发现的审查.
- 对生殖系和体质致病变体的分析.
- 临床表型和炎症途径的总结.
主要成果:
- SAIDs涉及复杂的遗传原因,包括生殖系和体质变异.
- 这些变体会影响各种炎症信号通路.
- 在了解SAID机制方面取得了重大进展.
结论:
- 基因洞察力对于理解SAID病原体至关重要.
- 对遗传和分子机制的进一步研究是有必要的.
- 对SAIDs的全面知识有助于开发有针对性的疗法.
相关概念视频
Autoimmune Disorders
494
Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune...
Concept and Mechanism of Autoimmune Diseases
The immune...
494
Genome-wide Association Studies-GWAS
13.6K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
13.6K
T Cell Types and Functions
1.1K
When T cells with CD4 markers are activated, they give rise to two types of effector cells: helper T cells and regulatory T cells. Meanwhile, T cells with CD8 markers differentiate into effector cytotoxic T cells. The differentiation of CD4 T cells into helper T cell subsets, such as Th1, Th2, and Th17 cells, is dependent on the antigen type, antigen-presenting cell, and regulatory cytokines.
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...
1.1K
The JAK-STAT Signaling Pathway
9.0K
Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as SH2...
9.0K
Drugs for Treatment of Crohn's Disease in IBD Using Biologic Agents: Anti-TNF
173
Tumor Necrosis Factor (TNF), a proinflammatory cytokine, contributes significantly to the inflammation seen in Crohn's disease. It exists as soluble TNF and membrane-bound TNF, with actions mediated through TNF receptors (TNFR). TNFR activation leads to the release of proinflammatory cytokines, T-cell activation, collagen production, and leukocyte migration, all contributing to inflammation in Crohn's disease. Anti-TNF monoclonal antibodies, namely infliximab (Remicade), adalimumab...
173
Inflammatory Bowel Disease II: Crohn's Disease
291
Introduction
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
291


