Related Experiment Video

Updated: Aug 21, 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

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

Sara L Van Driest1, Vlad C Vasile, Steve R Ommen

  • 1Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

Journal of the American College of Cardiology
|November 3, 2004
PubMed

Insights

Myosin binding protein C (MYBPC3) mutations are found in 18% of hypertrophic cardiomyopathy (HCM) patients. Multiple MYBPC3 mutations indicate a more severe HCM presentation.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology

Background:

  • Mutations in MYBPC3 are a leading genetic cause of hypertrophic cardiomyopathy (HCM).
  • Previous studies have not fully characterized MYBPC3 mutation frequency and clinical presentation in large, diverse patient cohorts.

Purpose of the Study:

  • To determine the prevalence and clinical characteristics of MYBPC3 gene mutations in a large cohort of hypertrophic cardiomyopathy patients.
  • To investigate the association between MYBPC3 mutations and disease severity.

Main Methods:

  • Genomic DNA from 389 unrelated HCM patients was analyzed for MYBPC3 mutations using PCR, DHPLC, and DNA sequencing.
  • Clinical data, including age at diagnosis and hypertrophy, were collected and analyzed, blinded to genotype.

Main Results:

  • MYBPC3 mutations were identified in 71 (18%) of the 389 HCM patients, with 33 novel mutations found.
  • Patients with MYBPC3 mutations showed similar clinical presentations to those with other HCM genetic causes, except for those with multiple mutations.
  • Patients harboring multiple MYBPC3 mutations (2.6%) exhibited the most severe disease phenotype.

Conclusions:

  • This study provides the largest dataset on MYBPC3 mutation frequency and phenotype in HCM patients.
  • MYBPC3 mutations in HCM patients largely mimic the phenotype of beta-myosin heavy chain mutations.
  • The presence of multiple MYBPC3 mutations is associated with a significantly more severe hypertrophic cardiomyopathy presentation.
Abstract

More Related Videos

Probing Myosin Ensemble Mechanics in Actin Filament Bundles Using Optical Tweezers06:53

Probing Myosin Ensemble Mechanics in Actin Filament Bundles Using Optical Tweezers

Published on: May 4, 2022

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

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...
Overview of Myosin Structure and Function01:15

Overview of Myosin Structure and Function

Myosins are a family of molecular motor proteins, first identified in the skeletal muscles, where they are responsible for muscle contraction. Along with their role in muscle contraction, these proteins also play a role in the intracellular transport of molecules and vesicles. There are twenty-four classes of myosins based on their domain sequence and organization. Of the twenty-four, six classes (Myosin I, Myosin II, Myosin V, Myosin VI, Myosin VII, and Myosin X)  have been well characterized.
Mutations01:39

Mutations

Overview
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,...
ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased ATP...
The Sarcomere01:08

The Sarcomere

A sarcomere is a microscopic segment repeating in a myofibril. The sarcomere fundamentally consists of two main myofilaments: thick filaments called myosin and thin filaments called actin. These filaments interact by sliding past each other in response to stimulus. In addition to myosin and actin, several other proteins, such as tropomyosin, troponin, titin, nebulin, myomesin, α-actinin, and dystrophin, play crucial roles in regulating, structuring, and functioning of the sarcomere.
Each myosin...