相关实验视频
Updated: Jan 6, 2026

08:09
A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish
Published on: June 7, 2018
10.2K
在产前期,酒精诱导和与癌症治疗相关的心肌病变的多基因易感性
Dimitri J Maamari1,2, Kiran J Biddinger1,3,4,5, Sean J Jurgens1,3,6
1Cardiovascular Disease Initiative, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Massachusetts.
JAMA cardiology
|October 1, 2025
概括
高扩张性心肌病 (DCM) 多基因得分与二次心肌病 (如周周心肌病 (PPCM),酒精诱导性心肌病 (ACM) 和与癌症治疗相关的心肌病 (CCM) 相关. 这表明DCM和这些条件的共同遗传基础受到环境因素的影响.
科学领域:
- 心血管遗传学 心血管遗传学
- 基因组学就是基因组学.
- 精准医学是一门精准的医学.
背景情况:
- 单基变体与二次心肌病相关,包括周周病 (PPCM),酒精诱导 (ACM) 和与癌症治疗相关 (CCM) 的心肌病.
- 在这些二次心肌病中,多基因倾向的作用仍然不清楚.
研究的目的:
- 评估扩张性心肌病 (DCM) 多基因得分与PPCM,ACM和CCM的关联.
- 评估单基因和多基因易感性对二次心肌病的贡献.
主要方法:
- 使用大型生物库数据进行回顾性遗传关联分析 (Mass General Brigham,英国生物库,FinnGen,百万退伍军人计划).
- 通过医疗记录审查确定二级心肌病病例和先前的临床风险因素.
- 对DCM多基因风险评分和DCM单基因变异的分析.
主要成果:
- DCM多基因分数与PPCM,ACM和CCM有显著的相关性.
- 在患有二次心肌病的个体中,单基因变体得到了丰富.
- 一个高的多基因分数赋予了大约3倍增加的心肌病的几率,通常在没有先前的临床风险因素的情况下.
结论:
- 患有PPCM,ACM和CCM的个体表现出单一的DCM变体和高的DCM多基因得分的丰富.
- 这些发现表明,二次心肌病和DCM的基础是共同的遗传易感性,由不同的环境触发器调节.
- 需要对更大的队列进行进一步的研究,以证实这些遗传架构发现.
更多相关视频
相关概念视频
Cardiomyopathy I: Introduction and Classification
465
Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
465
Cardiomyopathy V: Interprofessional Care
305
Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
305
Cardiomyopathy II: Dilated Cardiomyopathy
427
Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
427
Cancer Prevention
7.6K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
7.6K
Cardiomyopathy III: Hypertrophic Cardiomyopathy
354
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
354
Cardiomyopathy IV: Restrictive Cardiomyopathy
417
Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
417

