Related Experiment Video

Updated: Jul 17, 2025

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

3.2K

Clinical and genetic analysis of essential hypertension with CYB gene m.15024G>A mutation

Yunfan He1, Wenxu Li2, Zhen Liu2

  • 1School of Laboratory Medicine and Life Sciences, Attardi Institute of Mitochondrial Biomedicine, Wenzhou Medical University, Wenzhou 325035, Zhejiang Province, China. citronlake@163.com.

Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences
|August 29, 2023
PubMed

Insights

A mitochondrial CYB mutation may contribute to essential hypertension by disrupting mitochondrial structure and function. This genetic factor appears to play a synergistic role in disease development.

Area of Science:

  • Genetics
  • Mitochondrial Biology
  • Cardiovascular Disease

Background:

  • Essential hypertension is a complex cardiovascular disease with multifactorial causes.
  • Mitochondrial dysfunction has been implicated in various pathological conditions, including cardiovascular diseases.

Purpose of the Study:

  • To investigate the role of a specific mitochondrial CYB gene mutation (15024G>A) in the pathogenesis of essential hypertension.

Main Methods:

  • Analysis of clinical and genetic data from a hypertensive family with the CYB 15024G>A mutation.
  • Assessment of mitochondrial function in patient-derived lymphoblastoid cell lines, measuring ATP levels, mitochondrial membrane potential, and reactive oxygen species (ROS).

Main Results:

  • The CYB 15024G>A mutation was identified in maternal lineage members of the hypertensive family.
  • Cells with the mutation exhibited reduced mitochondrial CYB, ATP, and membrane potential, alongside increased ROS levels.
  • The mutation potentially alters mitochondrial CYB protein structure and stability, affecting electron transport function.

Conclusions:

  • The mitochondrial CYB 15024G>A mutation may impair mitochondrial structure and function, leading to cellular dysfunction.
  • This mutation is suggested to play a synergistic role in the development of essential hypertension.
Abstract

Keywords:
Essential hypertensionGene mutationMaternal inheritanceMitochondrial DNAMitochondrial dysfunctionRespiratory chain

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

33.8K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

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

Published on: January 16, 2019

11.0K

Related Concept Videos

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...
16
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...
25
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...
13.6K
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,...
14
Genetic Lingo01:11

Genetic Lingo

Overview
103.1K
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
22.8K