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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...

Ion Channels

Ion Channels

The movement of ions like sodium, potassium, and calcium into and out of the cell is essential to maintain the electrochemical gradient in living cells. The ion channels—a class of membrane transport proteins—help maintain this ionic gradient for the smooth functioning of physiological activities such as maintaining cell size and volume, conducting nerve impulses, and gas and nutrient exchange.
Ion channels are specialized integral membrane proteins on the plasma membrane that allow...

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).

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...

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Related Experiment Video

Updated: Feb 10, 2026

Author Spotlight: A Pharmacodissection Approach to Uncover Mechanisms in Cardiovascular Disease Risk Populations

Author Spotlight: A Pharmacodissection Approach to Uncover Mechanisms in Cardiovascular Disease Risk Populations

Published on: July 21, 2023

Dysfunctional Nav1.5 channels due to SCN5A mutations.

Dan Han¹, Hui Tan², Chaofeng Sun¹

¹1 Department of Cardiovascular Medicine, First Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710061, P.R. China.

Experimental Biology and Medicine (Maywood, N.J.)

|May 29, 2018

Summary

Mutations in the SCN5A gene cause dysfunctional Nav1.5 channels, leading to arrhythmias. This review classifies these SCN5A mutations based on their impact on peak and late sodium currents, offering new insights into arrhythmia mechanisms and treatment.

Keywords:

INa-L INa-P Nav1.5 SCN5A gain-of-function loss-of-function

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Area of Science:

Cardiovascular Electrophysiology
Molecular Cardiology
Genetics of Arrhythmias

Background:

The voltage-gated sodium channel 1.5 (Nav1.5), encoded by SCN5A, is critical for cardiomyocyte action potentials.
Nav1.5 dysfunction, due to SCN5A mutations, underlies various congenital arrhythmias.
Over 400 SCN5A mutations are known, affecting peak (I_Na-P) and late (I_Na-L) sodium currents.

Purpose of the Study:

To review mechanisms of Nav1.5 dysfunction caused by SCN5A mutations.
To provide novel classifications of SCN5A mutations based on functional phenotypes (loss-of-function, gain-of-function, or both).
To offer insights into improved arrhythmia treatment strategies.

Main Methods:

Comprehensive literature review of SCN5A mutations and their associated arrhythmias since 2013.
Analysis of mutation-induced alterations in I_Na-P and I_Na-L.
Classification of mutations based on electrophysiological phenotypes.

Main Results:

SCN5A mutations lead to arrhythmias through altered I_Na-P and I_Na-L.
Mutations can be categorized as loss-of-function, gain-of-function, or mixed.
Updated catalog of SCN5A mutations and their functional consequences.

Conclusions:

A novel classification system for SCN5A mutations enhances understanding of arrhythmia mechanisms.
This framework facilitates a better cell-to-bedside comprehension of arrhythmias.
Improved understanding promotes advancements in clinical management of arrhythmias.