Related Experiment Video

Updated: Jun 22, 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

Novel mitochondrial DNA mutations associated with Chinese familial hypertrophic cardiomyopathy

Yan-Ling Wei1, Chang-An Yu, Peng Yang

  • 1Institute of Material Medica and Department of Pharmaceutics, School of Pharmacy, Third Military Medical University, Chongqing, China.

Clinical and Experimental Pharmacology & Physiology
|May 29, 2009
PubMed

Insights

Mitochondrial DNA mutations, including G7697A, T12477C, and G13135A, are linked to hypertrophic cardiomyopathy (HCM) susceptibility in Chinese families. These findings may aid in early HCM diagnosis and genetic screening.

Area of Science:

  • Genetics
  • Mitochondrial Biology
  • Cardiovascular Disease

Background:

  • Hypertrophic cardiomyopathy (HCM) is a genetic heart condition with severe outcomes.
  • Mitochondrial DNA (mtDNA) mutations are increasingly implicated in HCM development.
  • Regional variations in mtDNA mutations contributing to HCM exist.

Purpose of the Study:

  • To investigate familial hypertrophic cardiomyopathy (HCM) in Chinese populations.
  • To identify specific mitochondrial DNA (mtDNA) mutations associated with HCM susceptibility.
  • To explore the impact of these mutations on mitochondrial function.

Main Methods:

  • Direct sequencing of the entire mitochondrial DNA (mtDNA) genome in affected and unaffected family members.
  • Statistical analysis to determine the frequency of mtDNA mutations and haplogroups.
  • Assay of mitochondrial Complex I activity.

Main Results:

  • A significantly higher frequency of haplogroup M10 was observed in HCM patients.
  • Three specific mtDNA mutations (G7697A, T12477C, G13135A) were significantly more prevalent in individuals with HCM.
  • Mitochondrial Complex I activity was markedly reduced in the HCM group, suggesting impaired mitochondrial respiratory function.

Conclusions:

  • mtDNA mutations G7697A, T12477C, and G13135A are associated with hypertrophic cardiomyopathy (HCM) susceptibility.
  • These mutations likely impact mitochondrial respiratory function.
  • The identified mutations serve as potential genetic markers for large-scale screening and early diagnosis of HCM.

More Related Videos

An Improved Method to Isolate Mitochondrial Contact Sites07:55

An Improved Method to Isolate Mitochondrial Contact Sites

Published on: June 16, 2023

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry06:53

Visualization of Mitochondrial Respiratory Function using Cytochrome C Oxidase / Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry

Published on: November 23, 2011

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...
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

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...
Mitochondrial Membranes01:45

Mitochondrial Membranes

A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...
Mutations01:39

Mutations

Overview