肺功能调节囊性纤维化患者的表观遗传年龄
Alice Castaldo1,2, Mariella Cuomo3,4, Paola Iacotucci5
1SC di Pneumologia e UTSIR, AORN Santobono-Pausilipon, 80129 Naples, Italy.
International journal of molecular sciences
|July 29, 2025
概括
囊性纤维化 (CF) 患者的表观遗传年龄与肺功能相关. 治疗elexacaftor/tezacaftor/ivacaftor (ETI) 疗法改善了表观遗传年龄和肺功能,这表明早期干预对于更好的结果至关重要.
科学领域:
- 生物化学 生物化学
- 遗传学 是一个遗传学.
- 肺部病理学 肺部病理学
背景情况:
- 囊性纤维化 (Cystic Fibrosis,CF) 是一种严重的自体逆性疾病,影响白种人.
- 囊性纤维化跨膜行为调节器 (CFTR) 调节器改善了患者的治疗结果.
- 表观遗传年龄是生物衰老的新生物标志物.
研究的目的:
- 用Horvath时钟模型研究使用elexacaftor/tezacaftor/ivacaftor (ETI) 治疗成年CF患者的表观遗传年龄.
- 评估表观遗传年龄,肺功能 (FEV1) 和对ETI治疗的反应之间的相关性.
- 探索表观遗传年龄作为预测CF个体治疗结果的生物标志物的潜力.
主要方法:
- 应用Horvath时钟模型来确定52名成年CF受试者的表观遗传年龄,在基线 (T0) 和ETI治疗一年后 (T1).
- 使用1秒内强制呼气体积 (FEV1) 评估肺功能.
- 在加速和非加速表观遗传衰老的患者之间比较表观遗传年龄和肺功能.
主要成果:
- 在基线时,一半的CF患者表现出加速表观遗传年龄和较差的肺功能 (FEV1).
- 一年ETI治疗改善了表观遗传年龄和肺功能,特别是在最初肺功能受损的受试者中.
- 基线时表观遗传年龄较低的CF受试者表现出更好的肺功能维护和ETI的进一步改善,以及健康和体力活动的增加.
结论:
- 在CF患者中,ETI治疗对表观遗传年龄和肺功能产生积极影响.
- 建议早期启动CFTR调节器治疗,特别是对于肺功能受损的个体.
- 表观遗传年龄分析显示,作为评估囊性纤维化个体治疗反应和结果的生物标志物具有前途.
相关概念视频
Cystic Fibrosis: Management
224
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
Sinus disease and chronic...
224
Cystic Fibrosis: Pathogenesis
366
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
366
Chronic Obstructive Pulmonary Disease-II: Pathophysiology
3.1K
Chronic Obstructive Pulmonary Disease (COPD) pathophysiology is intricate and multifaceted, involving a complex interplay of physiological processes. Understanding these mechanisms is crucial for effectively managing and treating COPD. Here is an in-depth look at the critical elements in the pathophysiology of COPD:
Chronic Inflammation
Chronic Inflammation
3.1K
Epigenetic Regulation
3.1K
Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
X-chromosome...
3.1K
Pulmonary Function Tests
435
Pulmonary Function Tests (PFTs)
Pulmonary Function Tests are crucial diagnostic tools for assessing respiratory function, particularly in patients with chronic respiratory disorders. They comprehensively evaluate lung volumes, ventilatory function, breathing mechanics, diffusion, and gas exchange. These tests help diagnose pulmonary diseases and play a significant role in monitoring disease progression, evaluating disability, and assessing response to therapy.
PFTs involve using a spirometer, a...
Pulmonary Function Tests are crucial diagnostic tools for assessing respiratory function, particularly in patients with chronic respiratory disorders. They comprehensively evaluate lung volumes, ventilatory function, breathing mechanics, diffusion, and gas exchange. These tests help diagnose pulmonary diseases and play a significant role in monitoring disease progression, evaluating disability, and assessing response to therapy.
PFTs involve using a spirometer, a...
435


