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相关概念视频

Mitral Valve Prolapse I: Introduction01:27

Mitral Valve Prolapse I: Introduction

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IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
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Mitral Stenosis I: Introduction01:22

Mitral Stenosis I: Introduction

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Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...
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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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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...
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Mitral Regurgitation I: Introduction01:20

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Mitral regurgitation is characterized by the backward circulation of blood from the left ventricle to the left atrium during systole, a phase of the cardiac cycle when the heart contracts and pumps blood out of the chambers. This abnormal flow occurs primarily due to the dysfunction of the mitral valve or its supporting structures, which include the mitral leaflets, chordae tendineae, annulus, and papillary muscles.Etiology and Mechanisms:Primary Mitral Regurgitation: This type arises from...
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Mitral Valve Prolapse II: Assessment and Management01:22

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IntroductionA range of clinical features characterizes Mitral Valve Prolapse (MVP), but it is important to note that many individuals with MVP are asymptomatic and may remain so throughout their lives. For those who do exhibit symptoms, the following are the key clinical features:Palpitations: This is a common symptom where individuals feel an irregular or rapid heartbeat. Palpitations in MVP are often due to arrhythmias such as premature ventricular contractions or supraventricular...
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Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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相关实验视频

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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在DCHS1中发生的突变会导致心肌脱落

Ronen Durst1,2, Kimberly Sauls3, David S Peal4

  • 1Center for Human Genetic Research, Massachusetts General Hospital Research Institute and Department of Neurology, Harvard Medical School, 185 Cambridge Street, Boston, Massachusetts 02114 USA.

Nature
|August 11, 2015
PubMed
概括

DCHS1基因的基因突变与非综合征性门脱落 (MVP) 有关. 这一发现揭示了MVP的遗传原因, 并为这种常见的心脏病提供了潜在的治疗点.

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科学领域:

  • 遗传学
  • 心脏病学
  • 发育生物学

背景情况:

  • 膜缩 (MVP) 是一种常见的心脏病,通常是遗传的,但其遗传基础尚不清楚.
  • MVP是伴随着中膜吐和随后的中膜手术的主要原因.

研究的目的:

  • 确定非综合征性门缩 (MVP) 的遗传病因.

主要方法:

  • 一个多代MVP家族的完整外体序列.
  • 在斑马鱼,细胞培养和小鼠模型中的功能研究.
  • 来自患者和小鼠模型的中枢间细胞 (MVIC) 的分析.

主要成果:

  • 在初始家族中发现了DCHS1基因的错误突变,并与MVP分离.
  • 另外两个家族显示不同有害的DCHS1突变与MVP分离.
  • 发现DCHS1突变降低了蛋白质的稳定性,并导致斑马鱼和小鼠的心脏缺陷,影响了中枢的发育和MVIC功能.

结论:

  • DCHS1突变是非综合征性门脱落的重要原因.
  • 在DCHS1中发生的干扰会影响二手形态发生,MVIC迁移和细胞模式.
  • 了解DCHS1在MVP病变中的作用可能会导致新的治疗策略.