Table Of ContentMitochondrial Disorders Caused by Nuclear Genes
Lee-Jun C. Wong
Editor
Mitochondrial Disorders
Caused by Nuclear Genes
2123
Editor
Lee-JunC.Wong
DepartmentofMolecularandHumanGenetics
BaylorCollegeofMedicine
Houston,TX
USA
ISBN978-1-4614-3721-5 ISBN978-1-4614-3722-2(eBook)
DOI10.1007/978-1-4614-3722-2
SpringerNewYorkDordrechtHeidelbergLondon
LibraryofCongressControlNumber:2012947805
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Contents
PartI Overview
1 The Clinical Spectrum of Nuclear DNA-Related Mitochondrial
Disorders ..................................................... 3
SalvatoreDiMauroandValentinaEmmanuele
2 BiochemicalandMolecularMethods
fortheStudyofMitochondrialDisorders ......................... 27
Lee-JunC.Wong
PartII GenesInvolvedinMitochondrialDNABiogenesis
andMaintenanceofMitochondrialDNAIntegrity
3 MitochondrialDisordersAssociatedwiththeMitochondrial
DNAPolymeraseγ:AFocusonIntersubunitInteractions........... 49
MatthewJ.YoungandWilliamC.Copeland
4 Alpers–Huttenlocher Syndrome, Polymerase Gamma 1, and
MitochondrialDisease .......................................... 73
RussellP.SanetoandBruceH.Cohen
5 DeoxyguanosineKinase......................................... 91
DavidPaulDimmock
6 MPV17-Associated Hepatocerebral Mitochondrial DNA Depletion
Syndrome ..................................................... 103
AymanW.El-Hattab
7 MitochondrialDNADepletionduetoMutationsintheTK2Gene.... 113
FernandoScaglia
8 Mitochondrial DNA Multiple Deletion Syndromes, Autosomal
DominantandRecessive(POLG,POLG2,TWINKLEandANT1)... 123
MargheritaMilone
v
vi Contents
9 Defects in Mitochondrial Dynamics and Mitochondrial DNA
Instability ..................................................... 141
PatrickYu-Wai-Man,GuyLenaersandPatrickF.Chinnery
10 DepletionofmtDNAwithMMA:SUCLA2
andSUCLG1 .................................................. 163
NelsonHawkinsJrandBrettH.Graham
11 RRM2B-RelatedMitochondrialDisease........................... 171
GráinneS.Gorman,RobertD.S.Pitceathly,DouglassM.Turnbull
andRobertW.Taylor
PartIII ComplexSubunitsandAssemblyGenes
12 ComplexSubunitsandAssemblyGenes:ComplexI................ 185
AnnSaada(Reisch)
13 MitochondrialRespiratoryChainComplexII ..................... 203
JayaGanesh,Lee-JunC.WongandElizabethB.Gorman
14 MitochondrialComplexIIIDeficiencyofNuclearOrigin:
MolecularBasis,PathophysiologicalMechanisms,
andMouseModels... .......................................... 219
AlbertoBlázquez,LorenaMarín-Buera,MaríaMorán,
AlbertoGarcía-Bartolomé,JoaquínArenas,MiguelA.Martín
andCristinaUgalde
15 MitochondrialCytochromecOxidaseAssemblyinHealth
andHumanDiseases ........................................... 239
FlaviaFontanesiandAntoniBarrientos
PartIV MitochondrialProteinTranslationRelatedDiseases
16 MitochondrialAminoacyl-tRNASynthetases ...................... 263
HennaTyynismaa
17 Mitochondrial ProteinTranslation-Related Disease: Mitochondrial
RibosomalProteinsandTranslationFactors ...................... 277
BrettH.Graham
18 DisordersofMitochondrialRNAModification .................... 287
WilliamJ.Craigen
PartV Others
19 PyruvateDehydrogenaseComplexDeficiencies.................... 301
SuzanneD.DeBrosseandDouglasS.Kerr
Contents vii
20 NuclearGenesCausingMitochondrialCardiomyopathy............ 319
StephanieM.WareandJeffreyA.Towbin
21 Mitochondrial Diseases Caused by Mutations in Inner Membrane
ChaperoneProteins ............................................ 337
LisbethTranebjærg
Index ............................................................ 367
Contributors
JoaquínArenas InstitutodeInvestigación, HospitalUniversitario12deOctubre,
Avda.deCórdobas/n,28041Madrid,Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER),
46010Valencia,Spain
AntoniBarrientos DepartmentofNeurology,Biochemistry&MolecularBiology,
UniverstiyofMiamiMillerSchoolofMedicine,1600NW10thAve.,RMSB#2067,
Miami,FL33136,USA
e-mail:[email protected]
AlbertoBlázquez InstitutodeInvestigación,HospitalUniversitario12deOctubre,
Avda.deCórdobas/n,28041Madrid,Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER),
46010Valencia,Spain
PatrickF.Chinnery WellcomeTrustCentreforMitochondrialResearch,Institute
ofGeneticMedicine,InternationalCentreforLife,NewcastleUniversity,Newcastle
UponTyne,NE13BZ,UK
Department of Neurology, Royal Victoria Infirmary, Newcastle Upon Tyne, NE1
4LP,UK
BruceH.Cohen NeuroDevelopmentalScienceCenter,NeurologyDivision,Chil-
dren’sHospitalMedicalCenterofAkron,NortheastOhioMedicalUniversity,Akron,
OH44087,USA
WilliamJ.Craigen DepartmentofMolecularandHumanGenetics,BaylorCollege
ofMedicine,S842,OneBaylorPlaza,Houston,TX77030,USA
e-mail:[email protected]
SuzanneD.DeBrosse PediatricEndocrinologyandMetabolism,DepartmentofPe-
diatrics,CaseWesternReserveUniversity,RainbowBabiesandChildren’sHospital,
11100EuclidAvenue,Cleveland,OH44106–6004,USA
Salvatore DiMauro College of Physicians & Surgeons, 630 West 168th Street,
NewYork,NY10032,USA
e-mail:[email protected]
ix
x Contributors
Neurology Department, H. Houston Merritt Clinical Research Center, Columbia
UniversityMedicalCenter,NewYork,NY,USA
DavidPaulDimmock DepartmentofPediatrics,Children’sHospitalofWisconsin,
Medical College of Wisconsin, 9000 W.WisconsinAve., MS716, Milwaukee, WI
53226,USA
e-mail:[email protected]
Ayman W. El-Hattab Medical Genetics Section, Department of Pediatrics, The
Children’sHospitalatKingFahadMedicalCityandKingSaudbinAbdulazizUni-
versity for Health Science, P. O. Box 59046, Riyadh 11525, Kingdom of Saudi
Arabia
e-mail:[email protected]
Valentina Emmanuele Department of Neurology, Columbia University Medical
Center,NewYork,NY,USA
FlaviaFontanesi DepartmentofNeurology,UniversityofMiamiMillerSchoolof
Medicine,1600NW10thAve.,RMSB#2067,Miami,FL33136,USA
e-mail:[email protected]
Jaya Ganesh Clinical Pediatrics, Section of Metabolic Diseases, The Children’s
HospitalofPhiladelphia,Philadelphia,PA,USA
AlbertoGarcia-Bartolomé InstitutodeInvestigación,HospitalUniversitario12de
Octubre,Avda.deCórdobas/n,28041Madrid,Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER),
46010Valencia,Spain
ElizabethB.Gorman MedicalGeneticsLaboratories,BaylorCollegeofMedicine,
OneBaylorPlaza,NAB2015,Houston,TX77030,USA
e-mail:[email protected]
GráinneS.Gorman WellcomeTrustCentreforMitochondrialResearch,Institute
forAgeingandHealth,TheMedicalSchool,NewcastleUniversity,Newcastleupon
Tyne,NE24HH,UK
BrettH.Graham DepartmentofMolecularandHumanGenetics,BaylorCollege
ofMedicine,OneBaylorPlaza,MS:BCM225,Houston,TX77030,USA
e-mail:[email protected]
MedicalGenetics,TexasChildren’sHospital,Houston,TX,USA
NelsonHawkinsJr DepartmentofMolecularandHumanGenetics,BaylorCollege
ofMedicine,OneBaylorPlaza,MS:BCM225,Houston,TX77030,USA
Douglas S. Kerr Pediatric Endocrinology and Metabolism, Department of Pedi-
atrics,CaseWesternReserveUniversity,RainbowBabiesandChildren’sHospital,
11100EuclidAvenue,Cleveland,OH44106–6004,USA
e-mail:[email protected]
Contributors xi
Guy Lenaers Neuropathies Optiques Héréditaires, Institut des Neurosciences de
Montpellier,UniversitéMontpellierIetII,INSERMU1051,Montpellier,France
PatrickYu-Wai-Man WellcomeTrustCentreforMitochondrialResearch,Institute
ofGeneticMedicine,InternationalCentreforLife,NewcastleUniversity,Newcastle
UponTyne,NE13BZ,UK
e-mail:[email protected]
Department of Ophthalmology, Neuro-Ophthalmology Division, Royal Victoria
Infirmary,NewcastleUponTyne,NE14LP,UK
Margherita Milone Department of Neurology, Neuromuscular Division, Mayo
Clinic,200FirstSt.,SW,Rochester,MN55905,USA
e-mail:[email protected]
Lorena Marín-Buera Instituto de Investigación, Hospital Universitario 12 de
Octubre,Avda.deCórdobas/n,28041Madrid,Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER),
46010Valencia,Spain
MiguelA.Martín InstitutodeInvestigación,HospitalUniversitario12deOctubre,
Avda.deCórdobas/n,28041Madrid,Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER),
46010Valencia,Spain
María Morán Instituto de Investigación, Hospital Universitario 12 de Octubre,
Avda.deCórdobas/n,28041Madrid,Spain
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER),
46010Valencia,Spain
RobertD.S.Pitceathly MRCCentreforNeuromuscularDiseases,UCLInstitute
ofNeurologyandNationalHospitalforNeurologyandNeurosurgery,QueenSquare,
LondonWC1N3BG,UK
AnnSaada(Reisch) DepartmentofGeneticandMetabolicDiseasesandMonique
andJacquesRoboh
DepartmentofGeneticResearch,HadassahHebrewUniversityMedicalCenter,
P.O.Box12000,91120Jerusalem,Israel
e-mail:[email protected]
RussellP.Saneto NeurologyDepartment,DivisionofPediatricNeurology,Seattle
Children’sHospital,4800SandPointWayNE,Seattle,WA98105,USA
e-mail:[email protected]
FernandoScaglia DepartmentofMolecularandHumanGenetics,BaylorCollege
ofMedicineandTexasChildren’sHospital,ClinicalCareCenter,Suite1560,6701
FanninStreet,MailCodeCC1560,Houston,TX77030,USA
e-mail:[email protected]
