Telomeres in Health and Disease, Volume 125

205 Pages·2014·3.52 MB·English

by  Rodrigo Calado

VOLUMEONEHUNDRED ANDTWENTY FIVE
P
ROGRESS IN
MOLECULAR BIOLOGY
AND TRANSLATIONAL
SCIENCE
Telomeres in Health and Disease
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VOLUMEONEHUNDRED ANDTWENTY FIVE
P
ROGRESS IN
MOLECULAR BIOLOGY
AND TRANSLATIONAL
SCIENCE
Telomeres in Health and Disease
Edited by
RODRIGO T. CALADO
Department of Internal Medicine,
University of São Paulo at Ribeirão
Preto School of Medicine, Ribeirão
Preto, São Paulo, Brazil
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CONTENTS
Contributors ix
Preface xi
1. Telomere and Telomerase Biology 1
MiriamAparecida Giardini, MarcelaSegatto, MarceloSantosda Silva,
Vinícius SantanaNunes,and MariaIsabel NogueiraCano
1. Introduction 2
2. TheGeneralStructureofTelomericDNA 4
3. ReplicationofTelomeres 7
4. TelomericChromatin:ImplicationsforEndProtection,Telomere
Replication,andTelomereLengthRegulation 19
5. TERRA:TheTelomericRNATranscript 25
6. ConsequencesofTelomereDeprotection 26
Acknowledgments 29
References 29
2. Human Telomeres and Telomere Biology Disorders 41
SharonA.Savage
1. Introduction 42
2. TelomereBiologyinHumans 43
3. WhatIsaTBD? 45
4. ClinicalFeaturesoftheTBDs 46
5. Germ-LineGeneticsofTBDs 51
6. DiagnosingTBDs 55
7. GeneticCounselingConsiderations 56
8. ClinicalManagement 57
9. SummaryandFutureDirections 60
Acknowledgments 61
References 61
3. Telomere Biology in Stem Cells and Reprogramming 67
LuisF.Z.Batista
1. Introduction 68
2. TelomereHomeostasisinStemCells 69
v
vi Contents
3. CellularReprogramming 76
4. Conclusions 81
References 81
4. Telomere Dynamics and Aging 89
GeraldineAubert
1. Introduction:TelomereStructure,DeterminantsofTelomereDynamics,
MeasurementParameters,andRegulationMechanisms 90
2. TelomereConnectiontotheCharacteristicsofAging:CellSenescence
andApoptosis,MitochondrialFunction,andMetabolism 96
3. TelomeresDynamicsinEarlyEmbryonicDevelopment,StemCells,
andInfancy 99
4. TelomereDynamicsandAging-RelatedDisorders 102
5. Perspective 106
Acknowledgments 106
References 106
5. Telomeres in Molecular Epidemiology Studies 113
ClaraBodelon,Sharon A.Savage,and ShahinazM. Gadalla
1. Introduction 113
2. TLinAccessibleTissueasaSurrogatefortheDiseaseSite 116
3. ConsiderationsinObservationalStudiesofTL 117
4. EpidemiologicalEvaluationoftheRoleofTelomeresinHumanHealth 121
5. TheEffectofTLMethodofMeasurementonStudyResults 123
6. AnalyticConsiderationsinTLEpidemiologyStudies 125
7. Conclusions 126
Acknowledgment 127
References 127
6. Telomere Dysfunction and Hematologic Disorders 133
RaquelM.A. Paivaand RodrigoT. Calado
1. Introduction 133
2. BoneMarrowFailure 136
3. DyskeratosisCongenita 136
4. DiseaseAnticipation 140
5. AplasticAnemia 141
6. ClinicalManagementinBoneMarrowFailureSyndromes 143
7. TelomereShorteninginOtherBoneMarrowFailureSyndromes 145
Contents vii
8. AnimalModels 147
9. TelomeresandHematologicCancers 148
References 150
7. The Role of Telomeres in Liver Disease 159
YoshiakiSunami,Guido vonFigura, AlexanderKleger, PavelStrnad,
Norbert Hüser, andDanielHartmann
1. TelomeresandTelomerase,anOverview 160
2. TelomereShorteningandDiseaseProgression 161
3. TheRoleofTelomereDysfunctioninCirrhosisFormation 162
4. AssociationofTelomeraseMutationsWithLiverCirrhosis 163
5. TheRoleofTelomeresinMetabolicLiverDisease 164
6. TheRoleofTelomeresDuringCarcinogenesis 165
7. ChromosomalInstabilityandHepatocarcinogenesis 166
8. TelomereDysfunctionPromotesHepatocarcinogenesis 167
9. Conclusion 168
ConflictofInterests 168
References 168
8. Telomeres in Lung Diseases 173
RodrigoT. Calado
1. Introduction 173
2. IdiopathicPulmonaryFibrosis 174
3. TelomeresandEmphysema 178
4. TelomeresandDevelopmentofLungDisease 179
5. Conclusions 181
References 182
Index 185
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CONTRIBUTORS
GeraldineAubert
TerryFoxLaboratory,BritishColumbiaCancerAgency,Vancouver,BritishColumbia,
Canada
LuisF.Z.Batista
DepartmentofMedicine,andDepartmentofDevelopmentalBiology,Washington
UniversitySchoolofMedicine,St.Louis,Missouri,USA
ClaraBodelon
DivisionofCancerEpidemiologyandGenetics,NationalCancerInstitute,National
InstitutesofHealth,Bethesda,Maryland,USA
RodrigoT.Calado
DepartmentofInternalMedicine,UniversityofSa˜oPauloatRibeira˜oPretoSchoolof
Medicine,Ribeira˜oPreto,Sa˜oPaulo,Brazil
MariaIsabelNogueiraCano
Depto.deGene´tica,InstitutodeBiocieˆncias,Univ.EstadualPaulistaJu´liodeMesquitaFilho
UNESP-Botucatu,Sa˜oPaulo,Brazil
MarceloSantosdaSilva
Depto.deGene´tica,InstitutodeBiocieˆncias,Univ.EstadualPaulistaJu´liodeMesquitaFilho
UNESP-Botucatu,Sa˜oPaulo,Brazil
ShahinazM.Gadalla
DivisionofCancerEpidemiologyandGenetics,NationalCancerInstitute,National
InstitutesofHealth,Bethesda,Maryland,USA
MiriamAparecidaGiardini
Depto.deGene´tica,InstitutodeBiocieˆncias,Univ.EstadualPaulistaJu´liodeMesquitaFilho
UNESP-Botucatu,Sa˜oPaulo,Brazil
DanielHartmann
DepartmentofGeneralSurgery,KlinikumrechtsderIsar,TechnicalUniversityMunich,
Munich,Germany
NorbertHu¨ser
DepartmentofGeneralSurgery,KlinikumrechtsderIsar,TechnicalUniversityMunich,
Munich,Germany
AlexanderKleger
DepartmentofInternalMedicineI,UlmUniversityHospital,Ulm,Germany
Vin´ıciusSantanaNunes
Depto.deGene´tica,InstitutodeBiocieˆncias,Univ.EstadualPaulistaJu´liodeMesquitaFilho
UNESP-Botucatu,Sa˜oPaulo,Brazil
ix