Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: Implications for pathogenesis and treatment

Journal of Inherited Metabolic Disease

Volumn 36, Issue 1, 2013, Pages 63-73

  Duberley, Kate E C ^a   Abramov, Andrey Y ^a   Chalasani, Annapurna ^a   Heales, Simon J ^b   Rahman, Shamima ^a,b,c   Hargreaves, Iain P ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBENZOIC ACID; MITOCHONDRIAL DNA; OLIGOMYCIN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; UBIDECARENONE;

ARTICLE; CELL FUNCTION; CONTROLLED STUDY; DEPOLARIZATION; DISEASE ASSOCIATION; DRUG DETERMINATION; DRUG EFFICACY; DRUG STRUCTURE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME INHIBITION; ENZYME SYNTHESIS; HUMAN; HUMAN CELL; MEMBRANE POTENTIAL; MITOCHONDRION; NERVE CELL; NEUROBLASTOMA CELL; OXIDATIVE STRESS; PATHOGENESIS; RESPIRATORY CHAIN; TREATMENT RESPONSE;

4-AMINOBENZOIC ACID; ADENOSINE TRIPHOSPHATE; ATAXIA; CELL LINE, TUMOR; CEREBELLAR ATAXIA; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; ENERGY METABOLISM; HUMANS; MEMBRANE POTENTIAL, MITOCHONDRIAL; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL MEMBRANES; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; MUSCLE WEAKNESS; OXIDATIVE STRESS; UBIQUINONE;

EID: 84872599257     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9511-0     Document Type: Article

References (40)

1. Abramov AY et al. (2010) Mechanism of neurodegeneration of neurons with mitochondrial DNA mutations. Brain 133(Pt 3):797-807
2. Alam S, Nambudiri A, Rudney H (1975) 4-Hydroxybenzoate: polyprenyl transferase and the prenylation of 4-aminobenzoate in mammalian tissues. Arch Biochem Biophys 171(1):183-190
3. 10 defect. Neurology 63(4):727-729
4. Benzi G, Curti D, Pastoris O, Marzatico F, Villa RF (1991) Sequential damage in mitochondrial complexes by peroxidative stress. Neurochem Res 16(12):1295-1302
5. Biedler JL et al. (1978) Multiple neurotransmitter synthesis by human neuroblastoma cell lines and clones multiple neurotransmitter synthesis by human neuroblastoma cell lines and clones. Cancer Res 38:3751-3757
6. Bradford M (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal Biochem 72:248-254
7. Davey GP, Peuchen S, Clark JB (1998) Energy thresholds in brain mitochondria. Biochemistry 273(21):12753-12757
8. 10 as an internal standard. Clin Chem 51(12):2380-2382
9. Gandhi S et al. (2009) PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death. Mol Cell 33:627-638
10. González-Aragón D et al. (2005) Coenzyme Q and the regulation of intracellular steady-state levels of superoxide in HL-60 cells. BioFactors 25(1-4):31-41
11. Hargreaves, Heales, Land (1999) Mitochondrial respiratory chain defects are not accompanied by an increase in the activities of lactate dehydrogenase or manganese superoxide dismutase in paediatric skeletal muscle biopsies. J Inherit Metab Dis 22(8):925-931
12. Heales SJ, Davies SE, Bates TE (1995) Depletion of brain glutathione is accompanied by impaired mitochondrial function and decreased N-acetyl aspartate concentration. Neurochem Res 20(1):31-38
13. Kowaltowski V (1999) Mitochondrial damage induced by conditions of oxidative stress. Free Radic Biol Med 26(3-4):463-471
14. López-Martín JM et al. (2007) Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. Hum Mol Genet 16(9):1091-1097
15. Lowry O et al. (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193(1):265-271
16. McKenzie M et al. (2007) Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption. J Biol Chem 282(51):36845-36852
17. 10 deficiency. Cerebellum 6(2):118-122
18. Ogasahara S et al. (1989) Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci U S A 86(7):2379-2382
19. Papa S, Skulachev VP (1997) Reactive oxygen species, mitochondria, apoptosis and aging. Mol Cell Biochem 174(1-2):305-319
20. 10-responsive ataxia: 2-year-treatment follow-up. Mov Disord 25(9):1262-1268
21. 10 deficiency. FASEB J 22(6):1874-1885
22. 10 deficiency. FASEB J 24:3733-3743
23. Rahman et al. (2001) Neonatal presentation of coenzyme Q10 deficiency. J Pediatr 139(3):456-458
24. 10 deficiency. Neuromuscul Disord 22(1):76-86
25. Riederer P et al. (1989) Transition metals, ferritin, glutathione, and ascorbic acid in parkinsonian brains. J Neurochem 52(2):515-520
26. Rodríguez-Hernández A et al. (2009) Coenzyme Q deficiency triggers mitochondria degradation by mitophagy. Autophagy 5(1):19-32
27. Skulachev VP (1998) Uncoupling: new approaches to an old problem of bioenergetics. Biochim Biophys Acta 1363(2):100-124
28. Soussi B et al. (1990) Cytochrome c oxidase and cardiolipin alterations in response to skeletal muscle ischaemia and reperfusion. Acta Physiol Scand 138(2):107-114
29. Sugioka K, Nakano M, Totsune-Nakano H, Minakami H, Tero-Kubota S (1988) Mechanism of O2- generation in reduction and oxidation cycle of ubiquinones in a model of mitochondrial electron transport systems. Biochim Biophys Acta 936(3):377-385
30. Turrens JF, Boveris A (1980) Generation of superoxide anion by the NADH dehydrogenase of bovine heart mitochondria. Biochem J 191(2):421-427
31. Turrens, Alexandre, Lehninger (1985) Ubisemiquinone is the electron donor for superoxide by complex iii of heart mitochondria ' formation. Arch Biochem Biophys 237(2):408-414
32. Turunen M, Olsson J, Dallner G (2004) Metabolism and function of coenzyme Q. Biochim Biophys Acta Biomembr 1660(1-2):171-199
33. Ullrich O et al. (1999) Poly-ADP ribose polymerase activates nuclear proteasome to degrade oxidatively damaged histones. Proc Natl Acad Sci U S A 96(11):6223-6228
34. Wallace DC (2000) Mitochondrial defects in cardiomyopathy and neuromuscular disease. Am Hear J 139(2 Pt 3):S70-S85
35. Wittig I, Braun SH (2006) Blue native PAGE. Nat Protoc 1(1):418-428
36. Wittig I et al. (2007) Functional assays in high-resolution clear native gels to quantify mitochondrial complexes in human biopsies and cell lines. Electrophoresis 28(21):3811-3820
37. Yao Z et al. (2012) Cell metabolism affects selective vulnerability in PINK1-associated Parkinson's disease. J Cell Sci 124:4194-4202
38. Zhang Y, Marcillat O, Giulivi C, Ernster L (1990) The oxidative inactivation of mitochondrial electron transport chain components and ATPase. J Biol Chem 265(27):16330-16336
39. Zhu H et al. (2005) Role of Nrf2 signaling in regulation of antioxidants and phase 2 enzymes in cardiac fibroblasts: protection against reactive oxygen and nitrogen species-induced cell injury. FEBS Lett 579(14):3029-3036
40. Zhu H et al. (2007) Glutathione and glutathione-linked enzymes in normal human aortic smooth muscle cells: chemical inducibility and protection against reactive oxygen and nitrogen species-induced injury. Mol Cell Biochem 301(1-2):47-59