Related Experiment Video

Updated: May 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

3.3K

Mitochondrial DNA variations associated with hypertrophic cardiomyopathy

Periyasamy Govindaraj1, Nahid Akhtar Khan2, Bindu Rani3

  • 1Department of Biomedical Science, School of Basic Medical Sciences, Bharathidasan University, Tiruchirappalli, India.

Mitochondrion
|November 13, 2013
PubMed

Insights

Mitochondrial DNA (mtDNA) variations, including novel mutations, were identified in Indian patients with hypertrophic cardiomyopathy (HCM). However, mitochondrial haplogroups were not associated with HCM in this study.

Area of Science:

  • Genetics
  • Cardiology
  • Mitochondrial Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease characterized by left ventricular hypertrophy.
  • Mitochondrial DNA (mtDNA) mutations and haplogroups are implicated in various diseases.
  • Understanding genetic factors in HCM is crucial for diagnosis and treatment.

Purpose of the Study:

  • To investigate the role of mitochondrial DNA variations and haplogroups in the phenotype of hypertrophic cardiomyopathy among Indian patients.
  • To identify novel mtDNA mutations associated with HCM.
  • To explore the potential impact of these mutations on cardiac energy production.

Main Methods:

  • Complete mitochondrial DNA (mtDNA) sequencing was performed on 114 clinically characterized HCM patients.
  • Analysis included identification of novel variations, disease-associated mutations, and private mutations.
  • In silico predictions were used to assess the pathogenicity of identified mutations.

Main Results:

  • The study identified 28 novel mtDNA variations, 25 disease-associated mutations, and 50 private mutations.
  • Approximately 11.40% of HCM patients carried novel non-synonymous and/or MT-tRNA variations.
  • Two specific mutations (m.4797C>M and m.8728T>Y) were found in a heteroplasmic state, with in silico analysis suggesting potential pathogenicity affecting energy production.
  • No association was found between mitochondrial haplogroups and HCM in this cohort.

Conclusions:

  • Novel mitochondrial DNA variations, including potentially pathogenic mutations, are present in Indian patients with hypertrophic cardiomyopathy.
  • These variations may contribute to HCM pathogenesis by affecting cardiac energy metabolism.
  • Mitochondrial haplogroups do not appear to be associated with HCM in the studied Indian population.

Keywords:
HCMHaplogroupMitochondriaMutationmtDNA

More Related Videos

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

2.0K
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

36.5K

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...
810
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...
7.8K
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...
828
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,...
798
The Inner Mitochondrial Membrane01:28

The Inner Mitochondrial Membrane

The inner mitochondrial membrane is the primary site of ATP synthesis. The inner membrane domain that forms a smooth layer adjacent to the outer membrane is called the inner boundary membrane. This domain contains membrane transporters that drive metabolites in and out of the mitochondria.  In contrast, the inner membrane network that invaginates into the matrix space is called the cristae membrane. This domain accounts for principle mitochondrial function as it accommodates the protein...
3.9K
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
761