Related Experiment Video

Updated: Jun 6, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

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

Published on: August 8, 2022

[Study on cardiovascular diseases marker gene expression profile of familial aggregation hypertension]

Zhi-lu Wang1, Zeng-ying Wu, Xiao-fang Yang

  • 1Department of Cardiology, First Hospital of Lanzhou University, Lanzhou 730000, Gansu, China. wangzhilu@medmail.com.cn

Zhongguo Wei Zhong Bing Ji Jiu Yi Xue = Chinese Critical Care Medicine = Zhongguo Weizhongbing Jijiuyixue
|December 3, 2010
PubMed

Insights

Familial hypertension is linked to altered cardiovascular disease marker gene expression, particularly in coagulation and extracellular protease pathways. This study identifies key up-regulated and down-regulated genes in affected individuals.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Biology
  • Hypertension Research

Background:

  • Familial aggregation of hypertension suggests a genetic component.
  • Understanding gene expression profiles in these individuals is crucial for identifying disease markers.
  • Cardiovascular disease markers play a role in the pathophysiology of hypertension.

Purpose of the Study:

  • To investigate the gene expression profile of cardiovascular disease markers in patients with familial aggregation of hypertension.
  • To identify differentially expressed genes associated with familial hypertension.

Main Methods:

  • Selected patients with a family history of hypertension across three generations as the experimental group.
  • Utilized Oligo GEArray gene chip technology to analyze gene expression in peripheral blood.
  • Defined differential gene expression based on a ratio of positive/negative standard value >2.0 or ≤0.5 and >0.

Main Results:

  • Identified 10 up-regulated genes in the familial hypertension group, including those involved in lipid metabolism (apolipoprotein E), immune response (interferon-γ, interleukin-1β, IL-8), cell adhesion (integrin-β1, platelet endothelial cell adhesion molecule-1, selectin-P), extracellular molecules (matrix metalloproteinase-9), and coagulation (nuclear factor-ΚB).
  • Found 3 down-regulated genes: coagulation factor-III, lectin-like oxidized low density lipoprotein receptor-1, and serine protease inhibitor-1.
  • Specific genes identified include apolipoprotein E (ApoE), epithelial V-like antigen-1 (EVA-1), interferon-γ (IFN-γ), interleukin-1β (IL-1β), IL-8, integrin-β1 (ITGB-1), matrix metalloproteinase-9 (MMP-9), nuclear factor-ΚB (NF-ΚB), platelet endothelial cell adhesion molecule-1 (PECAM-1), selectin-P (SEL-P), coagulation factor-III (F-III), lectin-like oxidized low density lipoprotein receptor-1 (LOX-1), and serine protease inhibitor-1 (SERPINE-1).

Conclusions:

  • Familial aggregation of hypertension is associated with a diverse set of cardiovascular disease marker genes.
  • Coagulation and extracellular protease inhibitor-related genes appear particularly relevant to familial hypertension.
  • These findings highlight potential genetic targets for understanding and managing familial hypertension.
Abstract

Related Concept Videos

Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers01:19

Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers

Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
Hypertension III: Clinical Manifestations and Diagnostic Studies01:30

Hypertension III: Clinical Manifestations and Diagnostic Studies

Hypertension is asymptomatic and also referred to as the "silent killer" until it progresses to a severe stage or causes target organ disease. Patients may experience symptoms stemming from the strain on blood vessels and tissues in various organs or the heart's increased workload.Physical exams might show no abnormalities other than high blood pressure. Signs of vascular damage, when present, correspond to the organs supplied by the affected vessels, leading to target organ damage. For...
Hypertension II: Pathophysiology01:29

Hypertension II: Pathophysiology

Hypertension is a chronic condition in which the blood's force against artery walls is excessively high, posing risks such as heart disease. The condition's underlying mechanisms involve complex interactions among the cardiovascular, kidney, and autonomic nervous systems.Renin-Angiotensin-Aldosterone System (RAAS): This system significantly influences blood pressure regulation. When blood pressure decreases, the kidneys secrete renin. This enzyme transforms angiotensinogen, a plasma protein,...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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...
Hypertension and Regulation of Blood Pressure01:18

Hypertension and Regulation of Blood Pressure

Hypertension, the most common cardiovascular disease, is diagnosed through repeated measurements of elevated blood pressure. Its risks, including damage to the kidney, heart, and brain, are directly proportional to blood pressure levels. Starting from 115/75 mm Hg, the risk of cardiovascular disease doubles with each increment of 20/10 mm Hg. The diagnosis relies on blood pressure measurements, not on patient symptoms, as hypertension is often asymptomatic until end-organ damage is imminent or...