Spectrum of combined respiratory chain defects

Journal of Inherited Metabolic Disease
Johannes A MayrWolfgang Sperl

Abstract

Inherited disorders of mitochondrial energy metabolism form a large and heterogeneous group of metabolic diseases. More than 250 gene defects have been reported to date and this number continues to grow. Mitochondrial diseases can be grouped into (1) disorders of oxidative phosphorylation (OXPHOS) subunits and their assembly factors, (2) defects of mitochondrial DNA, RNA and protein synthesis, (3) defects in the substrate-generating upstream reactions of OXPHOS, (4) defects in relevant cofactors and (5) defects in mitochondrial homeostasis. Deficiency of more than one respiratory chain enzyme is a common finding. Combined defects are found in 49 % of the known disease-causing genes of mitochondrial energy metabolism and in 57 % of patients with OXPHOS defects identified in our diagnostic centre. Combined defects of complexes I, III, IV and V are typically due to deficiency of mitochondrial DNA replication, RNA metabolism or translation. Defects in cofactors can result in combined defects of various combinations, and defects of mitochondrial homeostasis can result in a generalised decrease of all OXPHOS enzymes. Noteworthy, identification of combined defects can be complicated by different degrees of severity of each affected en...Continue Reading

References

Apr 9, 1981·Nature·S AndersonI G Young
Apr 25, 2000·The EMBO Journal·H Schägger, K Pfeiffer
Apr 1, 2004·Molecular Cell·Rebeca Acín-PérezJosé A Enríquez
Apr 27, 2004·American Journal of Human Genetics·Yelena BykhovskayaNathan Fischel-Ghodsian
Oct 27, 2004·Annals of Neurology·Chaya MillerOrly Elpeleg
Nov 13, 2004·The New England Journal of Medicine·Marieke J H CoenenJan A M Smeitink
Oct 28, 2005·Brain : a Journal of Neurology·Claudia CagnoliAlfredo Brusco
Jul 22, 2006·Journal of Molecular Biology·Matthew McKenzieMichael T Ryan
Dec 21, 2006·Nucleic Acids Research·Eduardo Ruiz-PesiniDouglas C Wallace
Dec 23, 2006·American Journal of Human Genetics·Luis Carlos LópezMichio Hirano
Feb 1, 2007·Annual Review of Biochemistry·Walter Neupert, Johannes M Herrmann
Apr 27, 2007·The New England Journal of Medicine·Hans R WaterhamJames V Leonard
Aug 19, 2007·Journal of Inherited Metabolic Disease·A AebyP Van Bogaert
Sep 26, 2007·Annual Review of Medicine·William C Copeland
May 20, 2008·Biochimica Et Biophysica Acta·Ilka Wittig, Hermann Schägger
Sep 8, 2009·American Journal of Human Genetics·Avraham ZehariaOrly Elpeleg
Feb 25, 2010·The Journal of Clinical Investigation·John F O'TooleFriedhelm Hildebrandt
Mar 5, 2010·Molecular Biology of the Cell·Florin SasarmanUNKNOWN LSFC Consortium
Mar 17, 2010·Lancet·Hervé PuyJean-Charles Deybach
Jul 6, 2010·American Journal of Human Genetics·Hana AntonickaEric A Shoubridge
Oct 26, 2010·American Journal of Human Genetics·Andrew H CrosbyRobert N Lightowlers
Nov 26, 2010·European Journal of Human Genetics : EJHG·Esther Leshinsky-SilverTally Lerman-Sagie

❮ Previous
Next ❯

Citations

Apr 24, 2016·Free Radical Biology & Medicine·Raquel Moreno-Loshuertos, José Antonio Enríquez
Jul 15, 2016·Cell and Tissue Research·Nicole MaiRobert N Lightowlers
Nov 2, 2016·Nucleic Acids Research·Amutha BoominathanMatthew S O'Connor
Oct 4, 2016·Journal of Inherited Metabolic Disease·Monika OláhováRobert W Taylor
Jul 15, 2016·Journal of Medical Genetics·Yi Shiau NgRobert McFarland
Oct 21, 2016·Muscle & Nerve·Alan PestronkRati Choksi
Jun 28, 2017·PloS One·Panagiotis MitsopoulosJoaquín Madrenas
Feb 20, 2018·Nature Reviews. Nephrology·Josephine M Forbes, David R Thorburn
Aug 8, 2018·Topics in Magnetic Resonance Imaging : TMRI·Kshitij MankadAta Siddiqui
Nov 22, 2018·Journal of Human Genetics·Kei MurayamaAkira Ohtake
Jan 25, 2018·Nature·Raphael J MorscherJoshua D Rabinowitz
Apr 19, 2017·Annual Review of Genomics and Human Genetics·Lyndsey CravenDoug M Turnbull
Dec 14, 2017·The Journal of Biological Chemistry·Ann E FrazierAlison G Compton
Jun 13, 2017·Nature Communications·Laura S KremerHolger Prokisch
Mar 10, 2016·EMBO Molecular Medicine·Werner Jh KoopmanJan Am Smeitink
Sep 12, 2018·EMBO Molecular Medicine·Kyle ThompsonRobert W Taylor
Sep 6, 2019·Cellular and Molecular Life Sciences : CMLS·Shauna-Kay RhoomsEdward Owusu-Ansah
Nov 3, 2016·The Journal of Pathology·Charlotte L AlstonRobert W Taylor
Apr 12, 2019·Frontiers in Genetics·Sarah ForielAnnette Schenck
Dec 13, 2018·Oxidative Medicine and Cellular Longevity·René G FeichtingerHelmut Klocker
Sep 17, 2020·International Journal of Molecular Sciences·Ami KobayashiSatoshi Inoue
Mar 29, 2018·Disease Models & Mechanisms·Sarah ForielJan A M Smeitink
Aug 28, 2019·Journal of Human Genetics·Go Hun SeoBeom Hee Lee
Mar 7, 2020·Genetics and Molecular Biology·Marcos T OliveiraGrzegorz L Ciesielski
Dec 12, 2020·KI Reports·Anne M SchijvensMichiel F Schreuder
Nov 26, 2020·Life·Quynh-Chi L DangSteven B Vik
Oct 1, 2020·Molecular Therapy. Methods & Clinical Development·Li YangTaosheng Huang
Oct 27, 2020·Journal of Medicinal Chemistry·Yibin XuNouri Neamati
Jun 12, 2021·International Journal of Nephrology·Doaa M AbdouSara El Khateeb
Oct 1, 2021·Mitochondrion·Narayanappa GayathriShivani Sharma
Nov 10, 2021·EMBO Molecular Medicine·Silvia VidaliMartin Hrabě de Angelis

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Methods Mentioned

BETA
biopsies
GTPase

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