织物疾病中的高循环无细胞线粒体DNA:对炎症激活的洞察
Yujing Yuan1, Xinyu Zhang1, Yawen Zhao1
1Department of Neurology, Peking University First Hospital, Beijing, China.
Frontiers in immunology
|January 23, 2026
概括
升高的无细胞线粒体DNA (ccf-mtDNA) 表明在法布里病 (FD) 发病过程中线粒体功能障碍. 这种ccf-mtDNA显示出作为诊断生物标志物和FD潜在的治疗点的希望.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 病理学 病理学 病理学
背景情况:
- 费布里病 (FD) 是一种由α-银酸酶A (GLA) 基因突变引起的溶酶体储存障碍.
- 线粒体功能障碍越来越多地被认为是FD病变的贡献者.
- 循环无细胞DNA (ccf-DNA) 为细胞损伤和疾病过程提供了潜在的窗口.
研究的目的:
- 通过分析循环的无细胞线粒体DNA (ccf-mtDNA) 和核DNA (ccf-nDNA) 来调查FD中的线粒体功能障碍.
- 评估ccf-mtDNA作为FD生物标志物的诊断潜力.
- 探索ccf-DNA水平,炎症和FD患者的临床表现之间的关系.
主要方法:
- 在66名FD患者和21名健康对照中使用RT-qPCR量化血ccf-mtDNA和ccf-nDNA水平.
- 在以前未接受治疗的患者中测量了14种炎症性细胞因子.
- 分析了ccf-DNA水平,细胞因子概况,疾病生物标志物和临床标志物之间的关联,并进行了子组分析.
主要成果:
- 与对照组相比,以前没有接受过治疗的FD患者的ccf-mtDNA和mtDNA/nDNA比率显著更高.
- 在长期接受酶替代疗法 (ERT) 的患者中,ccf-mtDNA的升高持续存在.
- ccf-mtDNA表现出强大的诊断性能 (AUC=0.860) 具有70%的灵敏度和91%的特异性.
- ccf-mtDNA和mtDNA/nDNA比率与特定的炎症性细胞因子呈正相关性,特别是在患有经典FD的男性患者中.
结论:
- 升高的ccf-mtDNA反映了涉及FD病变发生的线粒体功能障碍,并与炎症激活相关.
- ccf-mtDNA作为FD的有前途的诊断生物标志物.
- ccf-mtDNA可能代表FD的额外治疗点,补充ERT.
更多相关视频
09:04DNBS/TNBS Colitis Models: Providing Insights Into Inflammatory Bowel Disease and Effects of Dietary Fat
Published on: February 27, 2014
48.6K
05:51Comparative Analysis of Experimental Methods to Quantify Animal Activity in Caenorhabditis elegans Models of Mitochondrial Disease
Published on: April 4, 2021
3.2K
相关概念视频
01:30Inflammatory Bowel Disease II: Crohn's Disease
989
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...
989
01:27Inflammatory Bowel Disease I: Ulcerative Colitis
940
Introduction
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...
940
01:21Inflammatory Bowel Disease V: Surgical Management
477
Surgical interventions for inflammatory bowel disease (IBD), which includes ulcerative colitis and Crohn's disease, are essential in managing symptoms and addressing complications. The selection of surgical procedures is contingent upon the specific conditions and complications that stem from these illnesses.
Here are some common surgical interventions for IBD:
Here are some common surgical interventions for IBD:
477
02:59Animal Mitochondrial Genetics
9.0K
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
9.0K
03:12Freezing Point Depression and Boiling Point Elevation
39.7K
Boiling Point Elevation
The boiling point of a liquid is the temperature at which its vapor pressure is equal to ambient atmospheric pressure. Since the vapor pressure of a solution is lowered due to the presence of nonvolatile solutes, it stands to reason that the solution’s boiling point will subsequently be increased. Vapor pressure increases with temperature, and so a solution will require a higher temperature than will pure solvent to achieve any given vapor pressure, including one...
The boiling point of a liquid is the temperature at which its vapor pressure is equal to ambient atmospheric pressure. Since the vapor pressure of a solution is lowered due to the presence of nonvolatile solutes, it stands to reason that the solution’s boiling point will subsequently be increased. Vapor pressure increases with temperature, and so a solution will require a higher temperature than will pure solvent to achieve any given vapor pressure, including one...
39.7K
01:29Inflammatory Bowel Disease IV: Pharmacological Management
553
Upon diagnosis, managing Inflammatory Bowel Disease (IBD) involves addressing several crucial aspects. The primary goals include resting the bowel, correcting malnutrition, and providing symptomatic relief. Resting the bowel may consist of medications to reduce inflammation and promote healing. Correcting malnutrition is essential, often requiring dietary adjustments and nutritional supplements. Symptomatic relief aims to ease pain, diarrhea, and other discomforts in IBD.
Pharmacologic...
Pharmacologic...
553