REFERENCES
1. Buchaklian AH, Helbling D, Ware SM, Dimmock DP. Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy. Mol Genet Metab 2012;107:92-4.
2. Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, et al. Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat 2008;29:330-1.
3. Scharfe C, Lu HH, Neuenburg JK, Allen EA, Li GC, et al. Mapping gene associations in human mitochondria using clinical disease phenotypes. PLoS Comput Biol 2009;5:e1000374.
5. Ricci E, Moraes CT, Servidei S, Tonali P, Bonilla E, et al. Disorders associated with depletion of mitochondrial DNA. Brain Pathol 1992;2:141-7.
7. Gropman AL. Diagnosis and treatment of childhood mitochondrial diseases. Curr Neurol Neurosci Rep 2001;1:185-94.
8. Craig AK, de Menezes MS, Saneto RP. Dravet syndrome: patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects. Seizure 2012;21:17-20.
9. DiMauro S, Lombes A, Nakase H, Mita S, Fabrizi GM, et al. Cytochrome c oxidase deficiency. Pediatr Res 1990;28:536-41.
10. Figarella-Branger D, Pellissier JF, Scheiner C, Wernert F, Desnuelle C. Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement. J Neurol Sci 1992;108:105-13.
11. Hadzsiev K, Maasz A, Kisfali P, Kalman E, Gomori E, et al. Mitochondrial DNA 11777C>A mutation associated Leigh syndrome: case report with a review of the previously described pedigrees. Neuromolecular Med 2010;12:277-84.
12. Khurana DS, Salganicoff L, Melvin JJ, Hobdell EF, Valencia I, et al. Epilepsy and respiratory chain defects in children with mitochondrial encephalopathies. Neuropediatrics 2008;39:8-13.
13. Kirby DM, Crawford M, Cleary MA, Dahl HH, Dennett X, et al. Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder. Neurology 1999;52:1255-64.
14. Procaccio V, Wallace DC. Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. Neurology 2004;62:1899-901.
15. Wojtovich AP, Smith CO, Haynes CM, Nehrke KW, Brookes PS. Physiological consequences of complex II inhibition for aging, disease, and the mKATP channel. Biochim Biophys Acta 2013;1827:598-611.
16. Bleier L, Drose S. Superoxide generation by complex III: From mechanistic rationales to functional consequences. Biochim Biophys Acta 2013;1827:1320-31.
17. Marí M, Morales A, Colell A, García-Ruiz C, Kaplowitz N, et al. Mitochondrial glutathione: features, regulation and role in disease. Biochim Biophys Acta 2013;1830:3317-28.
18. Carelli V, La Morgia C, Sadun AA. Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options. Curr Opin Neurol 2013;26:52-8.
19. Bindoff LA, Desnuelle C, Birch-Machin MA, Pellissier JF, Serratrice G, et al. Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study. J Neurol Sci 1991;102:17-24.
20. Borchert A, Wolf NI, Wilichowski E. Current concepts of mitochondrial disorders in childhood. Semin Pediatr Neurol 2002;9:151-9.
21. Chitkara DK, Nurko S, Shoffner JM, Buie T, Flores A. Abnormalities in gastrointestinal motility are associated with diseases of oxidative phosphorylation in children. Am J Gastroenterol 2003;98:871-7.
22. Goodfellow JA, Dani K, Stewart W, Santosh C, McLean J, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: an important cause of stroke in young people. Postgrad Med J 2012;88:326-34.
23. Gordon N. Alpers syndrome: progressive neuronal degeneration of children with liver disease. Dev Med Child Neurol 2006;48:1001-3.
25. Katzberg H, Karamchandani J, So YT, Vogel H, Wang CH. End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review. J Child Neurol 2010;25:1382-8.
27. McDonald DG, McMenamin JB, Farrell MA, Droogan O, Green AJ. Familial childhood onset neuropathy and cirrhosis with the 4977bp mitochondrial DNA deletion. Am J Med Genet 2002;111:191-4.
28. Menezes MP, Ouvrier RA. Peripheral neuropathy associated with mitochondrial disease in children. Dev Med Child Neurol 2012;54:407-14.
31. Sakushima K, Tsuji-Akimoto S, Niino M, Saitoh S, Yabe I, et al. Adult Leigh disease without failure to thrive. Neurologist 2011;17:222-7.
32. Scaglia F. The role of mitochondrial dysfunction in psychiatric disease. Dev Disabil Res Rev 2010;16:136-43.
34. van Ekeren GJ, Stadhouders AM, Smeitink JA, Sengers RC. A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis. Eur J Pediatr 1993;152:255-9.
35. Wallace DC, Shoffner JM, Trounce I, Brown MD, Ballinger SW, et al. Mitochondrial DNA mutations in human degenerative diseases and aging. Biochim Biophys Acta 1995;1271:141-51.
36. Wells GD, Noseworthy MD, Hamilton J, Tarnopolski M, Tein I. Skeletal muscle metabolic dysfunction in obesity and metabolic syndrome. Can J Neurol Sci 2008;35:31-40.
37. Fodale V, La Monaca E. Propofol infusion syndrome: an overview of a perplexing disease. Drug Saf 2008;31:293-303.
38. Footitt EJ, Sinha MD, Raiman JA, Dhawan A, Moganasundram S, et al. Mitochondrial disorders and general anaesthesia: a case series and review. Br J Anaesth 2008;100:436-41.
39. Gurrieri C, Kivela JE, Bojanić K, Gavrilova RH, Flick RP, et al. Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series. Can J Anaesth 2011;58:751-63.
40. Papaioannou V, Dragoumanis C, Theodorou V, Pneumatikos I. The propofol infusion ‘syndrome’ in intensive care unit: from pathophysiology to prophylaxis and treatment. Acta Anaesthesiol Belg 2008;59:79-86.
41. Driessen J, Willems S, Dercksen S, Giele J, van der Staak F, et al. Anesthesia-related morbidity and mortality after surgery for muscle biopsy in children with mitochondrial defects. Paediatr Anaesth 2007;17:16-21.
42. Abramovich CM, Prayson RA, McMahon JT, Cohen BH. Ultrastructural examination of the axillary skin biopsy in the diagnosis of metabolic diseases. Hum Pathol 2001;32:649-55.
43. Chow CW, Thorburn DR. Morphological correlates of mitochondrial dysfunction in children. Hum Reprod 2000;15:68-78.
44. Edwards RH, Round JM, Jones DA. Needle biopsy of skeletal muscle: a review of 10 years experience. Muscle Nerve 1983;6:676-83.
45. Friedman SD, Shaw DW, Ishak G, Gropman AL, Saneto RP. The use of neuroimaging in the diagnosis of mitochondrial disease. Dev Disabil Res Rev 2010;16:129-35.
47. Gulati S, Shah T, Menon S, Jayasundar R, Kalra V. Magnetic resonance spectroscopy in pediatric neurology. Indian J Pediatr 2003;70:317-25.
48. Kyriacou K, Kyriakides T. Mitochondrial encephalomyopathies: a review of routine morphological diagnostic methods with emphasis on the role of electron microscopy. J Submicrosc Cytol Pathol 2006;38:201-8.
49. McCormick E, Place E, Falk MJ. Molecular genetic testing for mitochondrial disease: from one generation to the next. Neurotherapeutics 2013;10:251-61.
50. Micaglio G, Ceccato MB, Trevisan C, Angelini C. Quantitative histopathology in congenital myopathies. Riv Neurol 1987;57:261-8.
51. Mohri I, Taniike M, Fujimura H, Matsuoka T, Inui K, et al. A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6 years of follow-up. J Neurol Sci 1998;158:106-9.
52. Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, et al. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004;114:925-31.
53. Suomalainen A. Biomarkers for mitochondrial respiratory chain disorders. J Inherit Metab Dis 2011;34:277-82.
54. Tatke M. Mitochondrial myopathies-clinicopathological features and diagnostic modalities. Indian J Pathol Microbiol 2007;50:467-77.
55. Vallance H. Biochemical approach to the investigation of pediatric mitochondrial disease. Pediatr Dev Pathol 2004;7:633-6.
56. Berardo A, Dimauro S, Hirano M. A diagnostic algorithm for metabolic myopathies. Curr Neurol Neurosci Rep 2010;10:118-26.
57. Darras BT, Friedman NR. Metabolic myopathies: a clinical approach; part I. Pediatr Neurol 2000;22:87-97.
58. Meunier B, Fisher N, Ransac S, Mazat JP, Brasseur G. Respiratory complex III dysfunction in humans and the use of yeast as a model organism to study mitochondrial myopathy and associated diseases. Biochim Biophys Acta 2013;1827:1346-61.
59. Boot RG, Verhoek M, de Fost M, Hollak CE, Maas M, et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood 2004;103:33-9.
60. Gloerich J, Wevers RA, Smeitink JA, van Engelen BG, van den Heuvel LP. Proteomics approaches to study genetic and metabolic disorders. J Proteome Res 2007;6:506-12.
61. Tyynismaa H, Carroll CJ, Raimundo N, Ahola-Erkkilä S, Wenz T, et al. Mitochondrial myopathy induces a starvation-like response. Hum Mol Genet 2010;19:3948-58.
62. Tyynismaa H, Mjosund KP, Wanrooij S, Lappalainen I, Ylikallio E, et al. Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice. Proc Natl Acad Sci U S A 2005;102:17687-92.
63. Kochelaev BI, Yablokov YV. The beginning of paramagnetic resonance. Singapore: World Scientific Press; 1995.
64. Weil JA, Bolton JR. Electron paramagnetic resonance: elementary theory and practical applications. 2nd ed. New York: Wiley-Interscience; 2007.
65. Hanson G. Biological magnetic resonance 28. High resolution EPR: applications to metalloenzymes and metals in medicine. New York: Springer; 2009.
66. Hanson G. Biological magnetic resonance 29. Metals in biology:application of high resolution EPR to metalloenzymes. New York: Springer; 2010.
67. Misra SK. Multifrequency electron paramagnetic resonance: theory and applications. Weinheim (Germany): Wiley VCH; 2011.
68. Misra SK. Multifrequency electron paramagnetic resonance: data and techniques. Weinheim (Germany): Wiley VCH; 2014.
69. Bennett B. EPR of cobalt-substituted zinc enzymes. Biological Magnetic Resonance 2010;29:345-70.
70. Antholine WE, Bennett B, Hanson GR. Multifrequency EPR of Cu(II). In: Misra SK, editor. Multifrequency electron paramagnetic resonance: theory and applications. Weinheim (Germany): Wiley VCH; 2011. pp. 647-718.
71. Kowalski JM, Bennett B. Spin hamiltonian parameters for Cu(II)-prion pepetide complexes from L-band electron paramagnetic resonance spectroscopy. J Am Chem Soc 2011;133:1814-23.
72. Bennett B, Hill BC. Avoiding premature oxidation during the binding of Cu(II) to a dithiolate site in BsSCO. A rapid freeze-quench EPR study. FEBS Lett 2011;515:861-4.
73. Pharr CR, Kopff LA, Bennett B, Reid SA, McMahon RJ. Photochemistry of furyl- and thienyldiazomethanes: spectroscopic characterization of triplet 3-thienylcarbene. J Am Chem Soc 2012;134:6443-54.
74. Stein N, Gumataotao N, Hajnas N, Wu R, Lankathilaka KPW, et al. multiple states of nitrile hydratase from rhodococcus equi TG328-2: structural and mechanistic insights from electron paramagnetic resonance and density functional theory studies. Biochemistry 2017;56:3066-77.
76. Neese F. Software update: the ORCA program system, version 4.0. WIREs Comput Mol Sci 2018;8:e1327.
77. Poole CP. Electron spin resonance: a comprehensive treatise on experimental techniques. 2nd ed. Mineola NY: Dover; 1983.
78. Misra SK. Relaxation of paramagnetic spins. In: Misra SK, editor. Multifrequency electron paramagnetic resonance: theory and applications. Weinheim (Germany): Wiley VCH; 2011. pp. 455-96.
79. Bennett B, Helbling D, Meng H, Jarzembowski J, Geurts AM, et al. Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome. Free Radical Biol Med 2016;92:141-51.
80. Beinert H. EPR spectroscopy of components of the mitochondrial electron-transfer system. Methods Enzymol 1978;54:133-50.
81. Haddy A, Smith G. Transition metal and organic radical components of carp liver tissue observed by electron paramagnetic resonance spectroscopy. Comparative Biochem Physiol B Comparative Biochem 1999;123:407-15.
82. Kalyanaraman B, Cheng G, Zielonka J, Bennett B. Low-temperature EPR spectroscopy as a probe-free technique for monitoring oxidants formed in tumor cells and tissues: implications in drug resistance and OXPHOS-targeted therapies. Cell Biochem Biophys 2019;77:89-98.
83. Roessler MM, King MS, Robinson AJ, Armstrong FA, Harmer J, et al. Direct assignment of EPR spectra to structurally defined iron-sulfur clusters in complex I by double electron-electron resonance. Version 2. Proc Natl Acad Sci U S A 2010;107:1930-5.
84. Medvedev ES, Couch VA, Stuchebrukhov AA. Determination of the intrinsic redox potentials of FeS centers of respiratory complex I from experimental titration curves. Biochim Biophys Acta 2010;1797:1665-71.
85. Ohnishi T, Nakamaru-Ogiso E. Were there any “misassignments” among iron-sulfur clusters N4, N5 and N6b in NADH-quinone oxidoreductase (complex I)? Biochim Biophys Acta 2008;1777:703-10.
86. Yakovlev G, Reda T, Hirst J. Reevaluating the relationship between EPR spectra and enzyme structure for the iron sulfur clusters in NADH:quinone oxidoreductase. Proc Natl Acad Sci U S A 2007;104:12720-5.
87. Beinert H, Ackrell BA, Kearney EB, Singer TP. Iron-sulfur components of succinate dehydrogenase: stoichiometry and kinetic behavior in activated preparations. Eur J Biochem 1975;54:185-94.
88. Maguire JJ, Johnson MK, Morningstar JE, Ackrell BA, Kearney EB. Electron paramagnetic resonance studies of mammalian succinate dehydrogenase. Detection of the tetranuclear cluster S2. J Biol Chem 1985;260:10909-12.
89. Johnson MK, Morningstar JE, Bennett DE, Ackrell BA, Kearney EB. Magnetic circular dichroism studies of succinate dehydrogenase. Evidence for [2Fe-2S], [3Fe-xS], and [4Fe-4S] centers in reconstitutively active enzyme. J Biol Chem 1985;260:7368-78.
90. Kennedy MC, Antholine WE, Beinert H. An EPR investigation of the products of the reaction of cytosolic and mitochondrial aconitases with nitric oxide. J Biol Chem 1997;272:20340-7.
91. Salerno JC, Ohnishi T. Studies on the stabilized ubisemiquinone species in the succinate-cytochrome c reductase segment of the intact mitochondrial membrane system. Biochem J 1980;192:769-81.
92. Orme-Johnson NR, Hansen RE, Beinert H. Electron paramagnetic resonance-detectable electron acceptors in beef heart mitochondria. J Biol Chem 1974;249:1928-39.
93. Rieske JS, MacLennan DH, Coleman R. Isolation and properties of an iron-protein from the (reduced coenzyme Q)-cytochrome C reductase complex of the respiratory chain. Biochem Biophys Res Commun 1964;15:338-44.
94. Trumpower BL, Edwards CA. Purification of a reconstitutively active iron-sulfur protein (oxidation factor) from succinate. cytochrome c reductase complex of bovine heart mitochondria. J Biol Chem 1979;254:8697-706.
95. Siedow JN, Power S, de la Rosa FF, Palmer G. The preparation and characterization of highly purified, enzymically active complex III from baker’s yeast. J Biol Chem 1978;253:2392-9.
96. Aasa R, Albracht PJ, Falk KE, Lanne B, Vänngard T. EPR signals from cytochrome c oxidase. Biochim Biophys Acta 1976;422:260-72.
97. Kroneck PM, Antholine WE, Kastrau DH, Buse G, Steffens GC, et al. Multifrequency EPR evidence for a bimetallic center at the CuA site in cytochrome c oxidase. FEBS Lett 1990;268:274-6.
98. Chandran K, Aggarwal D, Migrino RQ, Joseph J, McAllister D, et al. Doxorubicin inactivates myocardial cytochrome c oxidase in rats: cardioprotection by Mito-Q. Biophys J 2009;96:1388-98.
99. Hagen WR. EPR of non-Kramers doublets in biological systems: characterization of an S = 2 system in oxidized cytochrome c oxidase. Biochim Biophys Acta 1982;708:82-98.
100. Cooper CE, Salerno JC. Characterization of a novel g’ = 2.95 EPR signal from the binuclear center of mitochondrial cytochrome c oxidase. J Biol Chem 1992;267:280-5.
101. Torii K, Iizuka T, Ogura Y. Magnetic susceptibility and EPR measurements of catalase and its derivatives. A thermal equilibrium between the high- and low-spin states in the catalase-azide compound. J Biochem 1970;68:837-41.
102. Bomba M, Camagna A, Cannistraro S, Indovina PL, Samoggia P. EPR study of serum ceruloplasmin and iron transferrin in myocardial infarction. Physiol Chem Phys 1977;9:175-80.
103. Harris DC. Different metal-binding properties of the two sites of human transferrin. Biochemistry 1977;16:560-4.
104. Dunne J, Caron A, Menu P, Alayash AI, Buehler PW, et al. Ascorbate removes key precursors to oxidative damage by cell-free haemoglobin in vitro and in vivo. Biochem J 2006;399:513-24.
105. Kumar P, Bulk M, Webb A, van der Weerd L, Oosterkamp TH, et al. A novel approach to quantify different iron forms in ex-vivo human brain tissue. Sci Rep 2016;6:38916.
106. Langley M, Ghosh A, Charli A, Sarkar S, Ay M, et al. Mito-apocynin prevents mitochondrial dysfunction, microglial activation, oxidative damage, and progressive neurodegeneration in mitopark transgenic mice. Antioxid Redox Signal 2017;27:1048-66.
107. Ghosh A, Chandran K, Kalivendi SV, Joseph J, Antholine WE, et al. Neuroprotection by a mitochondria-targeted drug in a Parkinson’s disease model. Free Rad Biol Med 2010;49:1674-84.
108. Cheng G, Zielonka M, Dranka B, Kumar SN, Myers CR, et al. Detection of mitochondria-generated reactive oxygen species in cells using multiple probes and methods: Potentials, pitfalls, and the future. J Biol Chem 2018;293:10363-80.
109. Kalyanaraman B, Cheng G, Hardy M, Ouari O, Bennett B, et al. Teaching the basics of reactive oxygen species and their relevance to cancer biology: Mitochondrial reactive oxygen species detection, redox signaling, and targeted therapies. Redox Biol 2018;15:347-62.
110. Siebers EM, Choi MJ, Tinklenberg JA, Beatka MJ, Ayres S, et al. Sdha+/- rats display minimal muscle pathology without significant behavioral or biochemical abnormalities. J Neuropathol Exp Neurol 2018;77:665-72.
111. Sethumadhavan S, Whitsett J, Bennett B, Ionova IA, Pieper GM, et al. Increasing tetrahydrobiopterin in cardiomyocytes adversely affects cardiac redox state and mitochondrial function independently of changes in NO production. Free Radic Biol Med 2016;93:1-11.
112. Levenberg K. A method for the solution of certain non-linear problems in least squares. Quarterly Applied Mathematics 1944;2:164-8.
113. Marquardt D. An algorithm for least-squares estimation of nonlinear parameters. SIAM J Applied Mathematics 1963;11:431-41.
114. Kanzow C, Yamashita N, Fukushima M. Levenberg-Marquardt methods with strong local convergence properties for solving nonlinear equations with convex constraints. J Comput Appl Math 2004;172:375-97.
115. Cheng G, Pan J, Podsiadly R, Zielonka J, Garces AM, et al. Increased formation of reactive oxygen species during tumor growth: Ex vivo low-temperature EPR and in vivo bioluminescence analyses. Free Radic Biol Med 2020;147:167-74.
116. Unden G, Bongaerts J. Alternative respiratory pathways of Escherichia coli: energetics and transcriptional regulation in response to electron acceptors. Biochim Biophys Acta 1997;1320:217-34.
117. Hausladen A, Fridovich I. Superoxide and peroxynitrite inactivate aconitases, but nitric oxide does not. J Biol Chem 1994;269:29405-8.
118. Vasquez-Vivar J, Kalyanaraman B, Kennedy MC. Mitochondrial aconitase is a source of hydroxyl radical. An electron spin resonance investigation. J Biol Chem 2000;275:14064-9.
119. Tortora V, Quijano C, Freeman B, Radi R, Castro L. Mitochondrial aconitase reaction with nitric oxide, S-nitrosoglutathione, and peroxynitrite: mechanisms and relative contributions to aconitase inactivation. Free Radical Biol Med 2007;42:1075-88.
120. Bulteau AL, Ikeda-Saito M, Szweda LI. Redox-dependent modulation of aconitase activity in intact mitochondria. Biochemistry 2003;42:14846-55.
121. Selvaratnam J, Robaire B. Overexpression of catalase in mice reduces age-related oxidative stress and maintains sperm production. Exp Gerontol 2016;84:12-20.
122. Schriner SE, Linford NJ, Martin GM, Treuting P, Ogburn CE, et al. Extension of murine life span by overexpression of catalase targeted to mitochondria. Science 2005;308:1909-11.
123. Meilhac O, Zhou M, Santanam N, Parthasarathy S. Lipid peroxides induce expression of catalase in cultured vascular cells. J Lipid Res 2000;41:1205-13.
124. Bai J, Rodriguez AM, Melendez JA, Cederbaum AI. Overexpression of catalase in cytosolic or mitochondrial compartment protects HepG2 cells against oxidative injury. J Biol Chem 1999;274:26217-24.
125. Dimmock D, Tang LY, Schmitt ES, Wong LJ. Quantitative evaluation of the mitochondrial DNA depletion syndrome. Clin Chem 2010;56:1119-27.
