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Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

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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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Myocarditis I: Introduction01:21

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Myocarditis is inflammation of the myocardium, which is the muscular layer of the heart.EtiologyMyocarditis has a diverse etiology, including a wide range of infectious and non-infectious causes:Infectious CausesViral: Common viruses include Coxsackie A and B, adenovirus, parvovirus B19, enteroviruses, and influenza A.Bacterial: Examples include infections caused by Streptococcus, Staphylococcus, and Mycoplasma species.Rickettsial: Infections like Rocky Mountain spotted fever can result in...
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Coronary Artery Disease I: Introduction01:30

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Coronary Artery Disease (CAD): An Overview with Scientific InsightsCoronary Artery Disease (CAD), often referred to as C-A-D, is a prevalent blood vessel disorder classified under the broader category of atherosclerosis. Atherosclerosis is a pathological process characterized by the hardening and narrowing of arteries due to the accumulation of atherosclerotic plaques. These plaques are composed of cholesterol, fatty substances, inflammatory cells, calcium, and fibrin, reducing blood flow to...
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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...
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Coronary Artery Disease II: Pathophysiology01:26

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Coronary Artery Disease (CAD) originates from a series of events that impair the function of coronary arteries, the blood vessels responsible for delivering oxygen-rich blood to the heart muscle. The pathophysiology of CAD is closely linked to atherosclerosis, a chronic inflammatory and lipid-driven condition affecting the vascular endothelium.1. Endothelial DamageThe process begins with damage to the vascular endothelium, which serves as a protective barrier between the blood and the vessel...
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Ischemic Heart Disease: Overview01:17

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Ischemic heart disease occurs when the heart's blood supply dwindles, causing an ominous lack of oxygen and nutrients. This deficiency, stemming from reduced or obstructed blood flow, spells danger, leading to heart muscle damage and dysfunction.
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Related Experiment Video

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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[Genetic Predisposition to Early Myocardial Infarction].

I A Goncharova1,2,3, M S Nazarenko1,2,4, N P Babushkina1

  • 1Research Institute for Medical Genetics, Tomsk, 634050 Russia.

Molekuliarnaia Biologiia
|May 12, 2020
PubMed
Summary
This summary is machine-generated.

This study reveals distinct genetic factors influencing early and late myocardial infarction (MI). Specific gene variants in ADAMDEC1 and AQP2 are linked to early-onset MI, while TAS2R38 is associated with late-onset MI.

Keywords:
ADAMDEC1AQP2CDKN2B-AS1ITGA4KIAA1462TAS2R38eQTLmyocardial infarctionrSNP

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Myocardial infarction (MI) susceptibility has a significant genetic component.
  • Understanding age-dependent genetic factors can refine risk prediction and prevention strategies for MI.

Purpose of the Study:

  • To identify age-specific genetic variations associated with myocardial infarction (MI).
  • To differentiate genetic markers for early-onset MI (before 60) versus late-onset MI (after 60).

Main Methods:

  • Genotyping of 58 single nucleotide variants (SNPs) in 355 MI patients (121 early, 234 late) and 285 controls using mass spectrometry.
  • Statistical analysis using R environment and evaluation of SNP regulatory potential via online services.
  • Identification of eQTL loci using GTEx project and Blood eQTL browser data.

Main Results:

  • Common MI-associated genotypes include ITGA4 rs1143674 (GG), CDKN2B-AS1 rs1333049 (CC), and KIAA1462 rs3739998 (CC).
  • Early MI is associated with ADAMDEC1 rs3765124 (AA) and AQP2 rs2878771 (GG).
  • Late MI is associated with TAS2R38 rs1726866 (TT).
  • Associated SNPs are regulatory, impacting gene expression and transcription factor binding.

Conclusions:

  • Early and late MI share common genetic underpinnings (ITGA4, CDKN2B-AS1, KIAA1462).
  • Distinct genetic variants (ADAMDEC1, AQP2 for early MI; TAS2R38 for late MI) contribute to age-specific MI susceptibility.
  • These findings highlight the complex genetic architecture of MI across different age groups.