Encyclopedic Ref of Genomics and Proteomics in Molecular Med, Książki, Biochemia
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Encyclopedic Reference of Genomics and Proteomics
in Molecular Medicine
D
ETLEV
G
ANTEN
.
K
LAUS
R
UCKPAUL
(Eds.)
Encyclopedic Reference of
Genomics and Proteomics
in Molecular Medicine
Volume 1
A-L
With 297 Figures and 112 Tables
Professor Dr. Detlev Ganten
Charité
Campus Charité Mitte
Schumannstr. 20/21
10117 Berlin
ganten@charite.de
Professor Em. Dr. Klaus Ruckpaul
Max Delbrück Center for Molecular Medicine (MDC) Berlin-Buch
Robert-Rössle-Straße 10
13125 Berlin
Germany
brandenburg@mdc-berlin.de
ISBN-10 3-540-44244-8 Springer Berlin Heidelberg New York
ISBN-13 978-3-540-44244-8 Springer Berlin Heidelberg New York
This publication is available also as
Electronic publication under ISBN-10: 3-540-29623-9/ISBN-13: 978-3-540-29623-2 and
Electronic and print bundle under ISBN-10: 3-540-30954-3/ISBN-13: 978-3-540-30954-3
Library of Congress Control Number: 2001012345
Bibliographic information published by Die Deutsche Bibliothek.
Die Deutsche Bibliothek lists this publication in the Deutsche Nationalbibliografie;
This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of
translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in other ways, and storage in data banks.
Duplication of this publication or parts thereof is only permitted under the provisions of the German Copyright Law of September 9, 1965, in
its current version, and permission for use must always be obtained from Springer-Verlag. Violations are liable for prosecution under the
German Copyright Law.
Springer is part of Springer Science+Business Media
springeronline.com
© Springer-Verlag Berlin Heidelberg New York 2006
Printed in Germany
The use of registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names
are exempt from the relevant protective laws and regulations and therefore free for general use.
Product liability: The publishers cannot guarantee the accuracy of any information about the application of operative techniques and
medications contained in this book. In every individual case the user must check such information by consulting the relevant literature.
Development Editor: Dr. Michaela Bilic, Dr. Natasja Sheriff, Heidelberg
Production Editor: Frank Krabbes, Heidelberg
Cover design: Frido Steinen-Broo, Girona
Printed on acid free paper
SPIN: 10893219
2109fk - 5 4 3 2 1 0
Preface
The development of molecular medicine is closely linked with the rapidly growing knowledge in molecular
biology, molecular genetics and genome research. Research findings in these fields have led to a shift in therapeutic
targets. Whilst until recently only gene products such as enzymes and cell receptors represented targets of
diagnostic processes, today the information carriers DNA and RNA themselves are evolving into target molecules,
or medicinal drugs. Alongside researching into interactive processes on a cellular level
–
drawn from the
biochemical advances made in the past century
mutation and disorders of mechanisms of gene expression are
becoming the object of clinical research and of application in diagnosis and therapy. Hence, genomics and
proteomics are developing into new fields of research, and their results are substantially influencing the future
orientation of the fundamentals for diagnosis and therapy.
–
These new research fields including molecular biology have generated a huge amount of new terms, abbreviations
(acronyms) which need explanation. Therefore these encyclopedic references are aimed at making all those
acquainted with selected terms most frequently used in genomics and proteomics in molecular medicine who are
not directly involved in those termini by their research.
The theoretical background of molecular medicine is based on the assumption that one or more molecular and/or
genetic causes (e.g. changes caused by point mutation, deletions, shift in the reading frame etc.) underlie the
outbreak of all diseases. Inversely, however, this does not necessarily imply that every mutated gene leads to a
disorder in the sense of genetic determinism. There are forms of mutation that result in a transformed gene product
without triggering any disease. For an illness to take shape many other factors besides a changed gene play a role,
such as the endogenous disposition (e.g. inherent damage caused by previous illnesses) and exogenous factors (of
environmental nature, strain through incompatibility of medication, drinking and smoking etc.). Genomics and
proteomics are evolving into key technologies of advances in molecular medicine.
The transfer of molecular biological knowledge into therapeutic treatment is still at the initial stage. So far, results
in gene therapy have fallen short of high-flying expectations. Instead, diagnostic methods based on molecular
biology have found their way into medical practice.
Molecular medicine is scientifically based both on classical medicine, which is characterized by a phenotypical
description of symptoms, and on the specific genotypical characterization of methods employed in molecular
biology and genetic engineering. For the first time, this enabled a systematic analysis of the molecular causes of
illnesses in a precise and rapid manner hitherto unattained. Molecular biological methods such as high-throughput
techniques based on biochips are already being applied in various medical fields, and have significantly improved
diagnosis, for instance in the prediction of risk estimation in certain illnesses, or with regard to sensitivity and
specificity of treatment. This widens diagnostic scope in areas such as hereditary diseases of monogenetic origin,
which until now could only be described phenomenologically, and enables preventive treatment and causal therapy
of such diseases in the future. Evidently, even the molecular causes of uninfluenceable pleiotropic diseases are
becoming increasingly tangible, moving their therapeutic treatment within reach.
This has a decisive impact on medical work. Nevertheless, molecular medicine, too, will retain its basic character
which is precise clinical observation and integral medical care. Without thorough medical examination and
detailed phenotypical description neither phenotype-genotype association of any significance can be derived,
nor can the possibilities of detailed gene standardisation be fully exploited. The conventional physical examination
and the analysis of the gene profile remain of equal importance in the domains of both research as well as medical
care.
The spectacular publication on the human genome comprising 3.2 billion base sequences, which appeared
simultaneously in the journals
“
Nature
”
(International non-commercial project, Head: Francis Collins) and
“
(Genetic engineering company Celera Genomics, Head: Craig Venter) on the 50th anniversary of the
double helix discovery by James Watson and Francis Crick in April 2003, marked a new era in biological basic
research and in the knowledge of the components of human life. The successful decoding of the sequence raises the
question about its function in the organism.
Science
”
[ Pobierz całość w formacie PDF ]
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Encyclopedic Reference of Genomics and Proteomics
in Molecular Medicine
D
ETLEV
G
ANTEN
.
K
LAUS
R
UCKPAUL
(Eds.)
Encyclopedic Reference of
Genomics and Proteomics
in Molecular Medicine
Volume 1
A-L
With 297 Figures and 112 Tables
Professor Dr. Detlev Ganten
Charité
Campus Charité Mitte
Schumannstr. 20/21
10117 Berlin
ganten@charite.de
Professor Em. Dr. Klaus Ruckpaul
Max Delbrück Center for Molecular Medicine (MDC) Berlin-Buch
Robert-Rössle-Straße 10
13125 Berlin
Germany
brandenburg@mdc-berlin.de
ISBN-10 3-540-44244-8 Springer Berlin Heidelberg New York
ISBN-13 978-3-540-44244-8 Springer Berlin Heidelberg New York
This publication is available also as
Electronic publication under ISBN-10: 3-540-29623-9/ISBN-13: 978-3-540-29623-2 and
Electronic and print bundle under ISBN-10: 3-540-30954-3/ISBN-13: 978-3-540-30954-3
Library of Congress Control Number: 2001012345
Bibliographic information published by Die Deutsche Bibliothek.
Die Deutsche Bibliothek lists this publication in the Deutsche Nationalbibliografie;
This work is subject to copyright. All rights are reserved, whether the whole or part of the material is concerned, specifically the rights of
translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in other ways, and storage in data banks.
Duplication of this publication or parts thereof is only permitted under the provisions of the German Copyright Law of September 9, 1965, in
its current version, and permission for use must always be obtained from Springer-Verlag. Violations are liable for prosecution under the
German Copyright Law.
Springer is part of Springer Science+Business Media
springeronline.com
© Springer-Verlag Berlin Heidelberg New York 2006
Printed in Germany
The use of registered names, trademarks, etc. in this publication does not imply, even in the absence of a specific statement, that such names
are exempt from the relevant protective laws and regulations and therefore free for general use.
Product liability: The publishers cannot guarantee the accuracy of any information about the application of operative techniques and
medications contained in this book. In every individual case the user must check such information by consulting the relevant literature.
Development Editor: Dr. Michaela Bilic, Dr. Natasja Sheriff, Heidelberg
Production Editor: Frank Krabbes, Heidelberg
Cover design: Frido Steinen-Broo, Girona
Printed on acid free paper
SPIN: 10893219
2109fk - 5 4 3 2 1 0
Preface
The development of molecular medicine is closely linked with the rapidly growing knowledge in molecular
biology, molecular genetics and genome research. Research findings in these fields have led to a shift in therapeutic
targets. Whilst until recently only gene products such as enzymes and cell receptors represented targets of
diagnostic processes, today the information carriers DNA and RNA themselves are evolving into target molecules,
or medicinal drugs. Alongside researching into interactive processes on a cellular level
–
drawn from the
biochemical advances made in the past century
mutation and disorders of mechanisms of gene expression are
becoming the object of clinical research and of application in diagnosis and therapy. Hence, genomics and
proteomics are developing into new fields of research, and their results are substantially influencing the future
orientation of the fundamentals for diagnosis and therapy.
–
These new research fields including molecular biology have generated a huge amount of new terms, abbreviations
(acronyms) which need explanation. Therefore these encyclopedic references are aimed at making all those
acquainted with selected terms most frequently used in genomics and proteomics in molecular medicine who are
not directly involved in those termini by their research.
The theoretical background of molecular medicine is based on the assumption that one or more molecular and/or
genetic causes (e.g. changes caused by point mutation, deletions, shift in the reading frame etc.) underlie the
outbreak of all diseases. Inversely, however, this does not necessarily imply that every mutated gene leads to a
disorder in the sense of genetic determinism. There are forms of mutation that result in a transformed gene product
without triggering any disease. For an illness to take shape many other factors besides a changed gene play a role,
such as the endogenous disposition (e.g. inherent damage caused by previous illnesses) and exogenous factors (of
environmental nature, strain through incompatibility of medication, drinking and smoking etc.). Genomics and
proteomics are evolving into key technologies of advances in molecular medicine.
The transfer of molecular biological knowledge into therapeutic treatment is still at the initial stage. So far, results
in gene therapy have fallen short of high-flying expectations. Instead, diagnostic methods based on molecular
biology have found their way into medical practice.
Molecular medicine is scientifically based both on classical medicine, which is characterized by a phenotypical
description of symptoms, and on the specific genotypical characterization of methods employed in molecular
biology and genetic engineering. For the first time, this enabled a systematic analysis of the molecular causes of
illnesses in a precise and rapid manner hitherto unattained. Molecular biological methods such as high-throughput
techniques based on biochips are already being applied in various medical fields, and have significantly improved
diagnosis, for instance in the prediction of risk estimation in certain illnesses, or with regard to sensitivity and
specificity of treatment. This widens diagnostic scope in areas such as hereditary diseases of monogenetic origin,
which until now could only be described phenomenologically, and enables preventive treatment and causal therapy
of such diseases in the future. Evidently, even the molecular causes of uninfluenceable pleiotropic diseases are
becoming increasingly tangible, moving their therapeutic treatment within reach.
This has a decisive impact on medical work. Nevertheless, molecular medicine, too, will retain its basic character
which is precise clinical observation and integral medical care. Without thorough medical examination and
detailed phenotypical description neither phenotype-genotype association of any significance can be derived,
nor can the possibilities of detailed gene standardisation be fully exploited. The conventional physical examination
and the analysis of the gene profile remain of equal importance in the domains of both research as well as medical
care.
The spectacular publication on the human genome comprising 3.2 billion base sequences, which appeared
simultaneously in the journals
“
Nature
”
(International non-commercial project, Head: Francis Collins) and
“
(Genetic engineering company Celera Genomics, Head: Craig Venter) on the 50th anniversary of the
double helix discovery by James Watson and Francis Crick in April 2003, marked a new era in biological basic
research and in the knowledge of the components of human life. The successful decoding of the sequence raises the
question about its function in the organism.
Science
”
[ Pobierz całość w formacie PDF ]