Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

Viral Mutations

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

Mutation, Gene Flow, and Genetic Drift

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).

Mutations in Microorganisms

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...

Point and Frameshift Mutations

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

<i>Kbtbd13</i> knockdown restores muscle function in a clinically relevant mouse model of nemaline myopathy type 6.

Science translational medicine·2026

Same author

RBM20 isoform regulation by independent transcription start sites adapts alternative splicing in development and disease.

Nature communications·2026

Same author

Titin's P-zone domains A164-167 are essential for thick filament structural arrangement.

The Journal of general physiology·2026

Same author

Rbm20 antisense oligonucleotides alleviate diastolic dysfunction in a mouse model of cardiometabolic heart failure (HFpEF).

Cardiovascular research·2025

Same author

The titin N2A-MARP signalosome constrains muscle longitudinal hypertrophy in response to stretch.

bioRxiv : the preprint server for biology·2025

Same author

Glycerol storage increases passive stiffness of muscle fibers through effects on titin extensibility.

The Journal of general physiology·2025

Search research articles

Related Experiment Video

Updated: Jan 27, 2026

Examining Muscle Regeneration in Zebrafish Models of Muscle Disease

Examining Muscle Regeneration in Zebrafish Models of Muscle Disease

Published on: January 18, 2021

Titin mutations and muscle disease.

Dalma Kellermayer^1,2, John E Smith^1,2, Henk Granzier^3,4

¹Department of Cellular and Molecular Medicine, University of Arizona, MRB 325. 1656 E Mabel Street, Tucson, AZ, 85724-5217, USA.

Pflugers Archiv : European Journal of Physiology

|March 29, 2019

Summary

Mutations in the titin (TTN) gene are a leading cause of dilated cardiomyopathy (DCM). Exon skipping may offer a therapeutic strategy for TTN-related muscle diseases.

Keywords:

Dilated cardiomyopathy Exon skipping Mutations TTNtv Titin

More Related Videos

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

Published on: August 24, 2018

$X-ray Diffraction of Intact Murine Skeletal Muscle as a Tool for Studying the Structural Basis of Muscle Disease$

X-ray Diffraction of Intact Murine Skeletal Muscle as a Tool for Studying the Structural Basis of Muscle Disease

Published on: July 18, 2019

Related Experiment Videos

Last Updated: Jan 27, 2026

Examining Muscle Regeneration in Zebrafish Models of Muscle Disease

Examining Muscle Regeneration in Zebrafish Models of Muscle Disease

Published on: January 18, 2021

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

Published on: August 24, 2018

$X-ray Diffraction of Intact Murine Skeletal Muscle as a Tool for Studying the Structural Basis of Muscle Disease$

X-ray Diffraction of Intact Murine Skeletal Muscle as a Tool for Studying the Structural Basis of Muscle Disease

Published on: July 18, 2019

Area of Science:

Cardiology
Genetics
Molecular Biology

Background:

Next-generation sequencing identified titin (TTN) gene mutations as a significant cause of skeletal and cardiac myopathies.
TTN mutations are the primary genetic cause of dilated cardiomyopathy (DCM), accounting for approximately 20% of familial DCM cases.
Titin is a crucial sarcomeric protein, and the mechanisms underlying TTN mutation-induced muscle diseases remain unclear, with no targeted therapies currently available.

Purpose of the Study:

To review the current understanding of TTN mutations in muscle diseases, with a specific emphasis on dilated cardiomyopathy (DCM).
To explore potential therapeutic strategies for diseases caused by TTN mutations.

Main Methods:

Literature review of studies investigating TTN mutations and associated myopathies.
Focus on research related to dilated cardiomyopathy (DCM) and titin (TTN) gene variants.
Analysis of potential therapeutic avenues, including exon skipping.

Main Results:

TTN mutations are the most common genetic cause of DCM.
Truncating TTN variants (TTNtvs) are frequently observed in familial DCM.
The precise pathogenic mechanisms of TTN mutations are not fully elucidated.

Conclusions:

TTN mutations represent a major genetic factor in DCM.
Exon skipping is proposed as a potential therapeutic approach for TTN-related myopathies, particularly those caused by TTNtvs.