Making a case for mitochondria in hypertrophic cardiomyopathy

Related Experiment Video

Updated: Jun 19, 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

3.1K

Pankaj Prasun1, Utkarsh Kohli1

  • 1Department of Pediatrics, West Virginia University Medicine, Morgantown, WV 26506, USA.

Future Cardiology
|July 25, 2024
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) is linked to mitochondrial disease. Sequencing the mitochondrial genome is crucial for diagnosing HCM, especially in genotype-negative cases, and may guide new therapies.

Area of Science:

  • Genetics
  • Cardiology
  • Mitochondrial Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a significant manifestation of inherited mitochondrial disease.
  • Current genetic testing panels for HCM often exclude mitochondrial genome sequencing.
  • Mitochondrial dysfunction is implicated in HCM pathogenesis, irrespective of nuclear gene panel results.

Observation:

  • Mitochondrial DNA variations can modify disease presentation in individuals with known HCM genotypes.
  • In individuals negative for known HCM genetic causes (genotype-negative), mitochondrial dysfunction may be the primary driver of the disease.
  • A recent study linked mitochondrial dysfunction to septal hypertrophy in genotype-negative HCM patients.

Findings:

  • Mitochondrial genome sequencing should be integrated into the genetic evaluation of HCM.
  • Mitochondrial dysfunction is a key factor in HCM, even when standard genetic tests are negative.
  • Septal hypertrophy in genotype-negative HCM is associated with mitochondrial dysfunction.

Implications:

  • Including mitochondrial sequencing could improve diagnostic yield for HCM.
  • Targeted therapies aimed at mitochondrial dysfunction may benefit HCM patients, particularly those who are genotype-negative.
  • Understanding the role of mitochondrial DNA in HCM can lead to personalized treatment strategies.

Keywords:
cardiomyopathygene panelhypertrophic cardiomyopathymitochondriamitochondrial DNA

More Related Videos

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix10:21

Scanning Electron Microscopy of Macerated Tissue to Visualize the Extracellular Matrix

Published on: June 14, 2016

10.0K
An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level06:02

An Approach to Study Shape-Dependent Transcriptomics at a Single Cell Level

Published on: November 2, 2020

5.7K

Related Concept Videos

Mitochondria01:37

Mitochondria

Mitochondria are eukaryotic cellular organelles that are known to produce energy through a process called oxidative phosphorylation. Besides their primary function, mitochondria are involved in various cellular processes, including cell growth, differentiation, signaling, metabolism, and senescence. Age-related changes cause a decline in mitochondrial quality and integrity due to increased mitochondrial mutations and oxidative damage. Thus, aging can severely impact mitochondrial functions,...
11.9K
Pathophysiology of Heart Failure01:17

Pathophysiology of Heart Failure

Heart failure (HF) is a progressive syndrome involving ventricles that leads to inadequate cardiac output. It can be classified based on location and output or ejection fraction. Ejection fraction (EF) is an essential measurement in the diagnosis and surveillance of HF. Reduced EF corresponds to systolic heart failure (HFrEF). However, HF with preserved ejection fraction (HFpEF) is becoming increasingly prevalent. Also known as diastolic HF, this form of HF is related to aging. The...
1.5K
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...
3.3K
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,...
9.7K
Translocation of Proteins into the Mitochondria01:19

Translocation of Proteins into the Mitochondria

Mitochondrial precursors are translocated to the internal subcompartments via independent mechanisms involving distinct protein machineries called translocases.
Sorting of outer membrane proteins:
Mitochondrial outer membrane proteins are of two types: the transmembrane, beta-barrel porins, and the membrane-anchored, alpha-helical proteins. Beta-barrel porin precursors are translocated by the TOM complex and inserted into the outer mitochondrial membrane by the SAM complex. In contrast,...
3.1K
Electron Transport Chain: Complex I and II01:46

Electron Transport Chain: Complex I and II

The mitochondrial electron transport chain (ETC) is the main energy generation system in the eukaryotic cells. However, mitochondria also produce cytotoxic reactive oxygen species (ROS) due to the large electron flow during oxidative phosphorylation. While Complex I is one of the primary sources of superoxide radicals, ROS production by Complex II is uncommon and may only be observed in cancer cells with mutated complexes.
ROS generation is regulated and maintained at moderate levels necessary...
12.7K