Clinical implications of mitochondrial disease

Advanced Drug Delivery Reviews

Volumn 60, Issue 13-14, 2008, Pages 1553-1560

  Muravchick, Stanley ^a  

^a HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

Aging; Anesthetic toxicity; Apoptosis; Bioenergetics; Inherited encephalomyopathy; Ischemic preconditioning; Mitochondrial cytopathy; Mitochondrial myopathy; Oxidative stress

Indexed keywords

AGING; ANESTHETIC TOXICITY; APOPTOSIS; BIOENERGETICS; INHERITED ENCEPHALOMYOPATHY; ISCHEMIC PRECONDITIONING; MITOCHONDRIAL CYTOPATHY; MITOCHONDRIAL MYOPATHY; OXIDATIVE STRESS;

ANESTHETICS;

ANESTHETIC AGENT;

AGING; ANESTHESIA COMPLICATION; APOPTOSIS; BIOENERGY; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENCEPHALOMYOPATHY; ENERGY METABOLISM; GENE MUTATION; HUMAN; INHERITANCE; MITOCHONDRIAL MYOPATHY; NONHUMAN; ONSET AGE; OXIDATIVE STRESS; PATHOPHYSIOLOGY; PERIOPERATIVE PERIOD; PRIORITY JOURNAL; REVIEW;

AGE OF ONSET; ANESTHETICS; CELL AGING; DNA, MITOCHONDRIAL; ENERGY METABOLISM; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION; NEURODEGENERATIVE DISEASES; PERIOPERATIVE CARE;

EID: 51249116034     PISSN: 0169409X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.addr.2008.03.019     Document Type: Review

References (111)

1. Linnane A.W., Marzuki S., Ozawa T., and Tanaka M. Mitochondrial DNA mutations as an important contributor to ageing and degenerative diseases. Lancet 1 (1989) 642-651
2. Wei Y.H. Mitochondrial DNA mutations and oxidative damage in aging and diseases, an emerging paradigm of gerontology and medicine. Proc. Natl. Sci. Council (China)-Part B 22 (1998) 55-67
3. Schapira A.H. Primary and secondary defects of the mitochondrial respiratory chain. J. Inherit. Metab. Dis. 25 (2002) 207-214
4. Schmiedel J., Jackson S., Schafer J., and Reichmann H. Mitochondrial cytopathies. J. Neurol. 250 (2003) 267-277
5. Schwartz M., and Vissing J. New patterns of inheritance in mitochondrial disease. Biochem. Biophys. Res. Commun. 310 (2003) 247-251
6. Kagawa Y., Hamamoto T., Endo H., Ichida M., Shibui H., and Hayakawa M. Genes of human ATP synthase, their roles in physiology and aging. Biosci. Rep. 17 (1997) 115-146
7. Suomalainen A., and Kaukonen J. Diseases caused by nuclear genes affecting mtDNA stability. Am. J. Med. Genet. A 106 (2001) 53-61
8. Wallace D.C., Zheng X.X., Lott M.T., Shoffner J.M., Hodge J.A., Kelley R.I., Epstein C.M., and Hopkins L.C. Familial mitochondrial encephalomyopathy (MERRF), genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 55 (1988) 601-610
9. Zeviani M., Bertagnolio B., and Uziel G. Neurological presentations of mitochondrial diseases. J. Inherit. Metab. Dis. 19 (1996) 504-520
10. Graeber M.B., and Muller U. Recent developments in the molecular genetics of mitochondrial disorders. Neurol. Sci. 153 (1998) 251-263
11. Zupanc M.L., Moraes C.T., Shanske S., Langman C.B., Ciafaloni E., and DiMauro S. Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes. Ann. Neurol. 29 (1991) 680-683
12. Mroczek-Tonska K., Kisiel B., Piechota J., and Bartnik E. Leber hereditary optic neuropathy - a disease with a known molecular basis but a mysterious mechanism of pathology. J. Appl. Genet. 44 (2003) 529-538
13. Tatuch Y., and Robinson B.H. The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria. Biochem. Biophys. Res. Commun. 192 (1993) 124-128
14. Treem W.R., and Sokol R.J. Disorders of the mitochondria. Semin. Liver Dis. 18 (1998) 237-253
15. Griggs R.C., and Karpati G. Muscle pain, fatigue, and mitochondriopathies. N. Engl. J. Med. 341 (1999) 1077-1078
16. Walker U.A., Collins S., and Byrne E. Respiratory chain encephalomyopathies, a diagnostic classification. Eur. Neurol. 36 (1996) 260-267
17. Rotig A. Renal disease and mitochondrial genetics. J. Nephrol. 16 (2003) 286-292
18. B.H. Cohen, Mitochondrial cytopathies, A primer. in: Mitochondrial cytopathies June 2000, online publication, http,//www.umdf.org/pdf/MITOCYTO.PDF
19. Lauwers M.R., Van Lersberghe C., and Camu F. Inhalation anaesthesia and the Kearns-Sayre syndrome. Anaesthesia 49 (1994) 876-878
20. Grattan-Smith P.J., Shield L.K., Hopkins I.J., and Collins K.J. Acute respiratory failure precipitated by general anesthesia in Leigh's syndrome. J. Child Neurol. 5 (1990) 137-141
21. Minamoto H., Kawabata K., Okuda B., Shibuya N., Tachibana H., Sugita M., Goto Y., Nishino I., and Nonaka I. Mitochondrial encephalomyopathy with elderly onset of stroke-like episodes. Intern. Med. (Tokyo) 35 (1996) 991-995
22. Johnston W., Karpati G., Carpenter S., Arnold D., and Shoubridge E.A. Late-onset mitochondrial myopathy. Ann. Neurol. 37 (1995) 16-23
23. Gillis L.A., and Sokol R.J. Gastrointestinal manifestations of mitochondrial disease. Gastroenterol. Clin. North Am. 32 (2003) 789-817
24. Eng C., Kiuru M., Fernandez M.J., and Aaltonen L.A. A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat. Rev.Cancer 3 (2003) 193-202
25. Wallace D.C., Lott M.T., Shoffner J.M., and Brown M.D. Diseases resulting from mitochondrial DNA point mutations. J. Inherit. Metab. Dis. 15 (1992) 472-479
26. Beal M.F. Mitochondria, oxidative damage, and inflammation in Parkinson's disease. Ann. N.Y. Acad. Sci. 991 (2003) 120-131
27. Calabrese V., Scapagnini G., Giuffrida Stella A.M., Bates T.E., and Clark J.B. Mitochondrial involvement in brain function and dysfunction, relevance to aging, neurodegenerative disorders and longevity. Neurochem. Res. 26 (2001) 739-764
28. Orth M., and Schapira A.H. Mitochondria and degenerative disorders. Am. J. Med. Genet. A 106 (2001) 27-36
29. Jordan J., Cena V., and Prehn J.H. Mitochondrial control of neuron death and its role in neurodegenerative disorders. J. Physiol. Biochem. 59 (2003) 129-141
30. Gardner A., Johansson A., Wibom R., Nennesmo I., von Dobeln U., Hagenfeldt L., and Hallstrom T. Alterations of mitochondrial function and correlations with personality traits in selected major depressive disorder patients. J. Affect. Disord. 76 (2003) 55-68
31. Kalman B., and Leist T.P. A mitochondrial component of neurodegeneration in multiple sclerosis. Neuromolecul. Med. 3 (2003) 147-158
32. Emerit J., Edeas M., and Bricaire F. Neurodegenerative diseases and oxidative stress. Biomed. Pharmacother. 58 (2004) 39-46
33. Boje K.M. Nitric oxide neurotoxicity in neurodegenerative diseases. Front. Biosci. 9 (2004) 763-776
34. Stolzing A., and Grune T. The proteasome and its function in the ageing process. Clin. Exp. Dermatol. 26 (2001) 566-572
35. Pipinos I.I., Sharov V.G., Shepard A.D., Anagnostopoulos P.V., Katsamouris A., Todor A., Filis K.A., and Sabbah H.N. Abnormal mitochondrial respiration in skeletal muscle in patients with peripheral arterial disease. J. Vasc. Surg. 38 (2003) 827-832
36. Yorek M.A. The role of oxidative stress in diabetic vascular and neural disease. Free Radic. Res. 37 (2003) 471-480
37. Petersen K.F., Dufour S., Befroy D., Garcia R., and Shulman G.I. Impaired mitochondrial activity in the insulin-resistant offspring of patients with type 2 diabetes. N. Engl. J. Med. 350 (2004) 664-671
38. Petersen K.F., Befroy D., Dufour S., Dziura J., Ariyan C., Rothman D.L., DiPietro L., Cline G.W., and Shulman G.I. Mitochondrial dysfunction in the elderly, possible role in insulin resistance. Science 300 (2003) 1140-1142
39. Corral-Debrinski M., Stepien G., Shoffner M., Lott M.T., Kanter K., and Wallace D.C. Hypoxemia is associated with mitochondrial DNA damage and gene induction; implications for cardiac disease. J. Am. Med. Assoc. 266 (1991) 1812-1816
40. Byrne J.A., Grieve D.J., Cave A.C., and Shah A.M. Oxidative stress and heart failure. Arch. Mal. Coeur Vaiss. 96 (2003) 214-221
41. Monteiro P., Oliveira P.J., Concalves L., and Providencia L.A. Pharmacological modulation of mitochondrial function during ischemia and reperfusion. Rev. Port. Cardiol. 22 (2003) 407-429
42. Davies M.G., and Hagen P.O. Systemic inflammatory response syndrome. Br. J. Surg. 84 (1997) 920-935
43. Budinger G.R., Duranteau J., Chandel N.S., and Schumacker P.T. Hibernation during hypoxia in cardiomyocytes; role of mitochondria as the O2 sensor. J. Biol. Chem. 273 (1998) 3320-3326
44. Fink M.P. Bench-to-bedside review, cytopathic hypoxia. Crit. Care 6 (2002) 491-499
45. Watts J.A., Kline J.A., Thornton L.R., Grattan R.M., and Brar S.S. Metabolic dysfunction and depletion of mitochondria in hearts of septic rats. J. Mol. Cell. Cardiol. 36 (2004) 141-150
46. Gellerich F.N., Trumbeckaite S., Hertel K., Zierz S., Muller-Werdan U., Werdan K., Redl H., and Schlag G. Impaired energy metabolism in hearts of septic baboons, diminished activities of complex I and complex II of the mitochondrial respiratory chain. Shock 11 (1999) 336-341
47. Levy R.J., Vijayasarathy C., Raj N.R., Avadhani N.G., and Deutschman C.S. Competitive and noncompetitive inhibition of myocardial cytochrome c oxidase in sepsis. Shock 21 (2004) 110-114
48. Bruemmer-Smith S., Stuber F., and Schroeder S. Protective functions of intracellular heat-shock protein (HSP) 70-expression in patients with severe sepsis. Intensive Care Med. 27 (2001) 1835-1841
49. Brunori M., Giuffre A., Sarti P., Stubauer G., and Wilson M.T. Nitric oxide and cellular respiration. Cell Mol. Life Sci. 56 (1999) 549-557
50. Sharpe M.A., and Cooper C.E. Interaction of peroxynitrite with mitochondrial cytochrome oxidase; catalytic production of nitric oxide and irreversible inhibition of enzyme activity. J. Biol. Chem. 273 (1998) 30961-30972
51. Taille C., El-Benna J., Lanone S., Boczkowski J., and Motterlini R. Mitochondrial respiratory chain and NAD(P)H oxidase are targets for the antiproliferative effect of carbon monoxide in human airway smooth muscle. J. Biol. Chem. 280 (2005) 25350-25360
52. Luft R. The development of mitochondrial medicine. Proc. Natl. Acad. Sci. 91 (1994) 8731-8738
53. Ozawa T. Genetic and functional changes in mitochondria associated with aging. Physiol. Rev. 77 (1997) 425-464
54. Sohal R.S., and Weindruch R. Oxidative stress, caloric restriction, and aging. Science 273 (1996) 59-63
55. Hattori K., Tanaka M., Sugiyama S., Obayashi T., Ito T., Satake T., Hanaki Y., Asai J., Nagano M., and Ozawa T. Age-dependent decrease in mitochondrial DNA in the human heart; possible contributory factor to presbycardia. Am. Heart J. 121 (1991) 1735-1742
56. Pollock M.L., Mengelkoch L.J., Graves J.E., Lowenthal D.T., Limacher M.C., Foster C., and Wilmor J.H. Twenty-year follow-up of aerobic power and body composition of older track athletes. J. Appl. Physiol. 82 (1997) 1508-1516
57. Wickens A.P. Aging and the free radical theory. Res. Physiol. 128 (2001) 379-391
58. Mandavilli B.S., Santos J.H., and Van Houten B. Mitochondrial DNA repair and aging. Mutat. Res. 509 (2002) 127-151
59. Stadtman E.R. Protein oxidation in aging and age-related diseases. Ann. N.Y. Acad. Sci. 928 (2001) 22-38
60. Trifunovic A., Wredenberg A., Falkenberg M., Spelbrink J.N., Rovio A.T., Bruder C.E., Bohlooly Y.M., Gidlof S., Oldfors A., Wibom R., Tornell J., Jacobs H.T., and Larsson N.-G. Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429 (2004) 417-423
61. Knight J.A. The biochemistry of aging. Adv. Clin. Chem. 35 (2000) 1-62
62. Holmes D.J., Fluckiger R., and Austad S.N. Comparative biology of aging in birds, an update. Exp. Gerontol. 36 (2001) 869-883
63. 2 production of heart mitochondria and aging rate are slower in canaries and parakeets than in mice, sites of free radical generation and mechanisms involved. Mech. Ageing Dev. 103 (1998) 133-146
64. Barja G., and Herrero A. Oxidative damage to mitochondrial DNA is inversely related to maximum life span in the heart and brain of mammals. FASEB J. 14 (2000) 312-318
65. Genova M.L., Pich M.M., Bernacchia A., Bianchi C., Biondi A., Bovina C., Falasca A.I., Formiggini G., Castelli G.P., and Lenaz G. The mitochondrial production of reactive oxygen species in relation to aging and pathology. Ann. N.Y. Acad. Sci. 1011 (2004) 86-100
66. Maslow A., and Lisbon A. Anesthetic considerations in patients with mitochondrial dysfunction. Anesth. Analg. 76 (1993) 884-886
67. Matsuno S., Hashimoto H., and Matsuki A. Neuroleptanesthesia for a patient with mitochondrial encephalomyopathy. Masui 43 (1994) 1038-1040
68. Rosaeg O.P., Morrison S., and MacLeod J.P. Anaesthetic management of labour and delivery in the parturient with mitochondrial myopathy. Can. J. Anaesth. 43 (1996) 403-407
69. Sabate S., Ferrandiz M., Paniagua P., Villamor J.M., Vilanova F., and Villar-Landeira J.M. Anesthesia in Kearns-Sayre syndrome mitochondrial myopathy. Rev. Esp. Anestesiol. Reanim. 43 (1996) 255-257
70. Ciccotelli K.K., Prak E.L., and Muravchick S. An adult with inherited mitochondrial encephalomyopathy; report of a case. Anesthesiology 87 (1997) 1240-1242
71. Itaya K., Takahata O., Mamiya K., Saito T., Tamakawa S., Akama Y., Kubota M., and Ogawa H. Anesthetic management of two patients with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Masui 44 (1995) 710-712
72. Figarella-Branger D., Kozak-Ribbens G., Rodet L., Aubert M., Borsarelli J., Cozzone P.J., and Pellissier J.F. Pathological findings in 165 patients explored for malignant hyperthermia susceptibility. Neuromuscul. Disord. 3 (1993) 553-556
73. Wiesel S., Bevan J.C., Samuel J., and Donati F. Vecuronium neuromuscular blockade in a child with mitochondrial myopathy. Anesth. Analg. 72 (1991) 696-699
74. D'Ambra M.N., Dedrick D., and Savarese J.J. Kearns-Sayre syndrome and pancuronium-succiny1choline induced neuromuscular blockade. Anesthesiology 51 (1979) 343-345
75. Naguib M., el Dawlatly A.A., Ashour M., and al-Bunyan M. Sensitivity to mivacurium in a patient with mitochondrial myopathy. Anesthesiology 84 (1996) 1506-1509
76. Wei Y.H., and Lee H.C. Oxidative stress, mitochondrial DNA mutation, and impairment of antioxidant enzymes in aging. Exp. Biol. Med. 227 (2002) 671-682
77. Johnson M.E., Uhl C.B., Spittler K.H., Wang H., and Gores G.J. Mitochondrial injury and caspase activation by the local anesthetic lidocaine. Anesthesiology 101 (2004) 1184-1194
78. Irwin, Fontaine E., Agnolucci L., Penzo D., Betto R., Bortolotto S., Reggiani C., Salviati G., and Bernardi P. Bupivacaine myotoxicity is mediated by mitochondria. J. Biol. Chem. 277 (2002) 12221-12227
79. Fredriksson A., Ponten E., Gordh T., and Eriksson P. Neonatal exposure to a combination of N-methyl-d-aspartate and [gamma]-aminobutyric acid type A receptor anesthetic agents potentiates apoptotic neurodegeneration and persistent behavioral deficits. Anesthesiology 107 (2007) 427-443
80. Jevtovic-Todorovic V., and Carter L.B. The anesthetics nitrous oxide and ketamine are more neurotoxic to old than to young rat brain. Neurobiol. Aging 26 (2005) 947-956
81. Mellon R.D., Simone A.F., and Rappaport B.A. Use of anesthetic agents in neonates and young children. Anesth. Analg. 104 (2007) 509-520
82. Olney J.W., Young C., Wozniak D.F., Ikonomidou C., and Jevtovic-Todorovic V. Anesthesia-induced developmental neuroapoptosis; does it happen in humans?. Anesthesiology 101 (2004) 273-275
83. Schubert A., Farag E., Dilger J., Chelune G., and Beercheck J. Depth of anesthesia and recovery from postoperative cognitive dysfunction. Anesthesiology 95 Suppl. (2001) A52
84. Weldon B.C., Mahla M.E., van der Aa M.T., and Monk T.G. Advancing age and deeper intraoperative anesthetic levels are associated with higher first year death rates. Anesthesiology 96 Suppl. (2002) A1097
85. Lennmarken C., Lindholm M.-L., Greenwald S., and Sandin R. Confirmation that low intraoperative BIS™ levels predict increased risk of post-operative mortality. Anesthesiology 99 Suppl. (2003) A303
86. Monk T.G., Weldon B.C., Garvan C.W., Dede D., van der Aa M.T., Heilman K.M., and Gravenstein J.S. Predictors of cognitive dysfunction after major noncardiac surgery. Anesthesiology 108 (2008) 18-30
87. Anand K.J.S. Anesthetic neurotoxicity in newborns, should we change clinical practice?. Anesthesiology 107 (2007) 2-4
88. Kitano H., Kirsch J.R., Hurn P.D., and Murphy S.J. Inhalational anesthetics as neuroprotectants or chemical preconditioning agents in ischemic brain. J. Cereb. Blood Flow Metab. 27 (2007) 1108-1128
89. Tanaka K., Ludwig L.M., Kersten J.R., Pagel P.S., and Warltier D.C. Mechanisms of cardioprotection by volatile anesthetics. Anesthesiology 100 (2004) 707-721
90. Chen H.W., Hsu C., Lu T.S., Wang S.J., and Yang R.C. Heat shock pretreatment prevents cardiac mitochondrial dysfunction during sepsis. Shock 20 (2003) 274-279
91. Gidday J.M. Cerebral preconditioning and ischaemic tolerance. Nat. Rev. Neurosci. 7 (2006) 437-448
92. Jia B., and Crowder M. Volatile anesthetic preconditioning present in the invertebrate Caenorhabditis elegans. Anesthesiology 108 (2008) 426-433
93. Sheth K., De A., Nolan B., Friel J., Duffy A., Ricciardi R., Miller-Graziano C., and Bankey P. Heat shock protein 27 inhibits apoptosis in human neutrophils. J. Surg. Res. 99 (2001) 129-133
94. Raeburn C.D., Cleveland Jr. J.C., Zimmerman M.A., and Harken A.H. Organ preconditioning. Arch. Surg. 136 (2001) 1263-1266
95. Patel H.H., Tsutsumi Y.M., and Roth D.M. Mito-controversies. mitochondrial permeability transition pore and myocardial reperfusion injury. Anesthesiology 108 (2008) 182-184
96. Jang Y., Xi J., and Wang H. Postconditioning prevents reperfusion injury by activating delta-opioid receptors. Anesthesiology 108 (2008) 243-250
97. Cohen P.J. Effect of anesthetics on mitochondrial function. Anesthesiology 39 (1973) 153-164
98. Lee S.L., Alto L.E., and Dhalla N.S. Subcellular effects of some anesthetic agents on rat myocardium. Can. J. Physiol. Pharmacol. 57 (1979) 65-71
99. Einarsdottir O., and Caughey W.S. Interactions of the anesthetic nitrous oxide with bovine heart cytochrome c oxidase; effects on protein structure, oxidase activity, and other properties. J. Biol. Chem. 263 (1988) 9199-9205
100. Becker G.L., Pelligrino D.A., Miletich D.J., and Albrecht R.F. The effects of nitrous oxide on oxygen consumption by isolated cerebral cortex mitochondria. Anesth. Analg. 65 (1986) 355-359
101. Hanley P.J., Ray J., Brandt U., and Daut J. Halothane, isoflurane and sevoflurane inhibit NADH, ubiquinone oxidoreductase (complex I) of cardiac mitochondria. J. Physiol. 544 (2002) 687-693
102. Garlid K.D., and Nakashima R.A. Studies on the mechanism of uncoupling by amine local anesthetics; evidence for mitochondrial proton transport mediated by lipophilic ion pairs. J. Biol. Chem. 258 (1983) 7974-7980
103. Dabbeni-Sala F., Schiavo G., and Palatini P. Mechanism of local anesthetic effect on mitochondrial ATP synthase as deduced from photolabelling and inhibition studies with phenothiazine derivatives. Biochim. Biophys. Acta 1026 (1990) 117-125
104. Tarba C., and Cracium C. A comparative study of the effects of procaine, lidocaine, tetracaine, and dibucaine on the functions and ultrastructure of isolated rat liver mitochondria. Biochim. Biophys. Acta 1019 (1990) 19-28
105. Nahrwold M.L., Clark C.R., and Cohen P.J. Is depression of mitochondrial respiration a predictor of in-vivo anesthetic activity?. Anesthesiology 40 (1974) 566-570
106. Delogu G., Antonucci A., Moretti S., Marandola M., Tellan G., Signore M., and Famularo G. Oxidative stress and mitochondrial glutathione in human lymphocytes exposed to clinically relevant anesthetic drug concentrations. J. Clin. Anesth. 16 (2004) 189-194
107. Cohen P.J. Effect of hydrostatic pressure on halothane-induced depression of mitochondrial respiration. Life Sci. 32 (1983) 1647-1650
108. Branca D., Vincenti E., and Scutari G. Influence of the anesthetic 2,6-diisopropylphenol (propofol) on isolated rat heart mitochondria. Comp. Biochem. Physiol. C Toxicol. Pharmacol. 110 (1995) 41-45
109. Kayser E.B., Morgan P.G., and Sedensky M.M. GAS-1, a mitochondrial protein controls sensitivity to volatile anesthetics in the nematode Caenorhabditis elegans. Anesthesiology 90 (1999) 545-554
110. Morgan P.G., Hoppel C.L., and Sedensky M.M. Mitochondrial defects and anesthetic sensitivity. Anesthesiology 96 (2002) 1268-1270
111. Muravchick S. The effects of aging on anesthetic pharmacology. Acta Anaesthesiol. Belg. 49 (1998) 79-84