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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...

Intrinsically Disordered Proteins

Intrinsically Disordered Proteins

Intrinsically disordered proteins are a group of proteins that do not fold into specific three-dimensional structures. Their structural flexibility allows them to complement ordered proteins to perform functions that are inaccessible to rigid structures. They are more common in eukaryotes than prokaryotes and may either be exclusively intrinsically disordered or hybrid proteins, consisting of a mix of ordered and disordered regions. The absence of a rigid structure in these proteins can be...

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,...

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Related Experiment Video

Updated: Feb 13, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes.

Ulrike Schindlbeck¹, Thomas Wittmann¹, Stefanie Höppner¹

¹Dr. von Hauner Children's Hospital, Ludwig-Maximilians University, German Centre for Lung Research (DZL), Munich, Germany.

|March 6, 2018

Summary

This summary is machine-generated.

Mutations in the ATP-binding cassette subfamily A member 3 (ABCA3) gene cause lung diseases. This study classified how different ABCA3 missense mutations disrupt surfactant homeostasis, aiding targeted treatment development for these genetic lung disorders.

Keywords:

ATP-binding cassette transporters human ABCA3 protein interstitial lung diseases respiratory distress syndrome of the newborn surfactant dysfunction

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Last Updated: Feb 13, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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Published on: June 15, 2011

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Extraction and Characterization of Surfactants from Atmospheric Aerosols

Extraction and Characterization of Surfactants from Atmospheric Aerosols

Published on: April 21, 2017

Area of Science:

Genetics
Molecular Biology
Pulmonology

Background:

Mutations in the ATP-binding cassette subfamily A member 3 (ABCA3) gene are a primary cause of neonatal surfactant dysfunction and pediatric interstitial lung diseases.
Predicting the functional impact of ABCA3 missense variants is challenging, unlike those causing truncated proteins.

Purpose of the Study:

To investigate the intracellular processing and cellular surfactant system disturbances caused by clinically relevant ABCA3 missense mutations.
To classify the cellular consequences of specific ABCA3 missense variants.

Main Methods:

Utilized a stable cell model expressing various clinically relevant ABCA3 missense mutations.
Analyzed intracellular ABCA3 protein localization and lipid transport function.

Main Results:

Identified distinct cellular impacts of ABCA3 missense mutations:
Disrupted protein localization (e.g., p.Q215K, p.M760R).
Impaired lipid transport (e.g., p.E292V, p.K1388N).
Mechanisms leading to interstitial lung disease despite normal localization and transport (e.g., p.R208W, p.R288K, p.G964D).

Conclusions:

Missense variants in the ABCA3 gene affect surfactant homeostasis through diverse cellular mechanisms.
Classification of these cellular consequences provides insights into disease pathogenesis.
Understanding these molecular pathomechanisms can guide targeted therapeutic strategies for ABCA3-related lung diseases.