Mitochondrial Disorders Caused by Nuclear Genes PDF
Preview Mitochondrial Disorders Caused by Nuclear Genes
Mitochondrial 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 © SpringerScience+BusinessMedia,LLC2013 Allrightsreserved.Thisworkmaynotbetranslatedorcopiedinwholeorinpartwithoutthewritten permissionofthepublisher(SpringerScience+BusinessMedia,LLC,233SpringStreet,NewYork,NY 10013,USA),exceptforbriefexcerptsinconnectionwithreviewsorscholarlyanalysis.Useinconnection withanyformofinformationstorageandretrieval,electronicadaptation,computersoftware,orbysimilar ordissimilarmethodologynowknownorhereafterdevelopedisforbidden. Theuseinthispublicationoftradenames,trademarks,servicemarks,andsimilarterms,eveniftheyare notidentifiedassuch,isnottobetakenasanexpressionofopinionastowhetherornottheyaresubject toproprietaryrights. Printedonacid-freepaper SpringerispartofSpringerScience+BusinessMedia(www.springer.com) 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]
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