Related Experiment Video

Updated: Jul 15, 2026

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
11:33

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes

Published on: March 12, 2013

Angiotensin-converting enzyme gene polymorphism in Japanese patients with hypertrophic cardiomyopathy

K Yoneya1, H Okamoto, M Machida

  • 1Institute of Immunological Science, Hokkaido University, Sapporo, Japan.

American Heart Journal
|November 1, 1995
PubMed

Insights

The angiotensin-converting enzyme (ACE) D allele is linked to hypertrophic cardiomyopathy (HCM). This genetic factor appears more significant in solitary HCM cases, suggesting a genetic predisposition.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Biology
  • Human Genetics

Background:

  • Hypertrophic cardiomyopathy (HCM) is a complex cardiac disease with known genetic underpinnings.
  • The role of specific gene polymorphisms, such as in the angiotensin-converting enzyme (ACE) gene, requires further investigation in HCM etiology.

Purpose of the Study:

  • To investigate the association between the angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism and hypertrophic cardiomyopathy (HCM).
  • To determine if the ACE I/D polymorphism contributes to genetic predisposition in familial (FHCM) and solitary (SHCM) forms of HCM.

Main Methods:

  • Genotyping of the ACE I/D polymorphism using polymerase chain reaction (PCR) in 80 HCM patients and 88 unaffected relatives.
  • Categorization of patients into familial (FHCM) and solitary (SHCM) groups.
  • Statistical analysis of D-allele frequencies and probability ratios between patient groups and controls.

Main Results:

  • The D-allele frequency was significantly higher in HCM patients (0.42) compared to relatives (0.35).
  • Probability ratios indicated an increased risk associated with the D allele in overall HCM, FHCM, and particularly SHCM.
  • The D allele frequency was notably higher in SHCM than in FHCM, suggesting a stronger genetic influence in solitary cases.

Conclusions:

  • The angiotensin-converting enzyme (ACE) D allele is a contributing genetic factor in hypertrophic cardiomyopathy (HCM).
  • Genetic predisposition, influenced by the ACE D allele, plays a significant role in the development of HCM, especially in solitary cases.

More Related Videos

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Related Concept Videos

Antihypertensive Drugs: Angiotensin-Converting Enzyme Inhibitors01:30

Antihypertensive Drugs: Angiotensin-Converting Enzyme Inhibitors

Angiotensin-converting enzyme (ACE), a vital component of the renin-angiotensin-aldosterone system, is abundant in lung endothelial cells. ACE converts the inactive decapeptide, angiotensin I, into the active octapeptide, angiotensin II. This potent vasoconstrictor narrows blood vessels, increasing resistance to blood flow and elevating blood pressure. Angiotensin II also stimulates aldosterone production, encouraging kidney cells to reabsorb more sodium and water from urine, thereby increasing...
Antihypertensive Drugs: Angiotensin II Receptor Blockers01:30

Antihypertensive Drugs: Angiotensin II Receptor Blockers

In the renin-angiotensin-aldosterone system, a hormone called angiotensin II plays a crucial role. It binds to the AT1 receptors in vascular smooth muscles coupled with Gq proteins. The activation of these receptors activates an enzyme called phospholipase C, which releases two molecules: inositol trisphosphate and diacylglycerol. These molecules cause a chain reaction that leads to the phosphorylation of myosin light chains and promotes interaction between actin and myosin, leading to smooth...
Heart Failure Drugs: Inhibitors of Renin-Angiotensin System01:26

Heart Failure Drugs: Inhibitors of Renin-Angiotensin System

The activation of the sympathetic nervous system and the renin-angiotensin-aldosterone system (RAAS) contributes to cardiac remodeling, and inhibiting the RAAS is a pharmacological target in heart failure management. As a result, neurohumoral modulation is a crucial treatment principle for managing heart failure. This approach involves using medications like ACE inhibitors (ACEIs), angiotensin receptor blockers (ARBs), β-blockers, mineralocorticoid receptor antagonists (MRAs), and neutral...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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...