Gene Mutations: Causes and Effects

138 Pages·2020·3.807 MB·English

by  Helena M. Christoffersen

GENETICS – RESEARCH AND ISSUES

G M
ENE UTATIONS

C E
AUSES AND FFECTS

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G – R I
ENETICS ESEARCH AND SSUES

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GENETICS – RESEARCH AND ISSUES

G M
ENE UTATIONS

C E
AUSES AND FFECTS

HELENA M. CHRISTOFFERSEN
EDITOR
Copyright © 2020 by Nova Science Publishers, Inc.

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Library of Congress Cataloging-in-Publication Data

Names: Christoffersen, Helena M., editor.
Title: Gene Mutations: Causes and Effects
Description: New York: Nova Science Publishers, [2019] | Series: Genetics – Research and Issues | Includes
bibliographical references and index.
Identifiers: LCCN 2019957063 (print) | ISBN 9781536169843 (paperback) |
ISBN 9781536170306 (adobe pdf)

Published by Nova Science Publishers, Inc. † New York
CONTENTS

Preface vii
Chapter 1 Types of Gene Mutations and Their Mechanisms 1
Mehmet Buyukleyla, Eyyup Rencuzogullari,
Muhsin Aydin and Mehmet Arslan
Chapter 2 Gene Mutations of Hereditary
Motor Neuron Diseases 59
Haruo Shimazaki
Chapter 3 ESR1 Gene Amplification in Breast Cancers Is an
Effort for DNA Stabilization and a
Consequential Tumor Response 87
Zsuzsanna Suba
Index 119
Related Nova Publications 125

PREFACE

A gene is a DNA sequence that can be transcribed into an RNA molecule
and transferred to offspring organisms. Changes in DNA sequences that
determine the structure and function of a gene are called mutations. Gene
Mutations: Causes and Effects opens by exploring the physical, chemical,
and biological agents that cause mutations interact with DNA, leading to
genetic instability.
Recent advances in next-generation sequencing have led to the
discovery of new causative genes or those mutations. The authors describe
the phenotypes and gene mutations, discussing genotype-phenotype
correlations compared with previous reports.
Lastly, one study analyses all conflicting data concerning the
amplification of the ESR1 gene, particularly its ambiguous prevalence in
both untreated tumors and tumors either responsive or unresponsive to
antiestrogen therapy.
Chapter 1 - The DNA molecule is a very stable molecule, responsible
for the execution of all biological functions in our cells. Thanks to this
stability, genetic information is transmitted to the offspring in a correct way
for generations. Gene is a DNA sequence that can be transcribed into an
RNA molecule and transferred to offspring organisms. Changes in DNA
sequences that determine the structure and function of a gene are called
mutations. Mutations can be in protein-encoding sequences or in
transcription-regulating sequences (promotor, enhancer, silencer, insulator,
viii Helena M. Christoffersen
UTR, etc.). Physical, chemical, or biological agents that cause mutations
interact with DNA, leading to genetic instability. Mutations can be harmful,
beneficial or neutral to the organism by causing the DNA sequence to
acquire a new function or to lose the function of the gene. Most mutations
are known to have deleterious effects and are the source of many diseases
and disorders (cancer, hemoglobinopathies, Werner syndrome, Parkinson’s
disease, Huntington’s disease, Xeroderma pigmentosum, etc.). Mutations
increase the occurrence of genetic variations in populations and may lead to
a stronger adaptation of the organism to the changing environment than
others (e.g., the Δ32 mutant in the human CCR5 gene does not catch AIDS).
Neutral mutations that do not alter the function of the protein cause
polymorphisms by creating silent genetic alterations. These polymorphisms
can also give an advantage to living things in the evolutionary process.
Chapter 2 - Hereditary motor neuron diseases can be grouped into three
categories. Those with upper motor neuron involvement are called
hereditary spastic paraplegias (HSP), those with lower motor neuron
involvement are referred to as spinal muscular atrophy (SMA), distal
hereditary motor neuropathy (dHMN), Charcot-Marie-Tooth disease
(CMT), and those with combined upper and lower motor neuron
involvement are designated as familial amyotrophic lateral sclerosis
(FALS). They are caused by mutations in the various genes. Recent
advances in next-generation sequencing have discovered new causative
genes or those mutations. The authors could identify several gene mutations
in HSP, CMT, and FALS families using whole-exome or genome
sequencing. In this review, the authors described the phenotypes and gene
mutations and discussed genotype-phenotype correlations compared with
previous reports.
Chapter 3 - The reported amplification of the estrogen receptor alpha
gene (ESR1) in breast cancers initiated a broad and still ongoing scientific
debate on the prevalence and clinical significance of this genetic alteration.
The presented study analyses all conflicting data concerning the
amplification of ESR1 gene; its ambiguous prevalence in both untreated
tumors and tumors either responsive or unresponsive to antiestrogen
therapy. The fact will be highlighted that in healthy breast cells, the