Drug Effects in Patients with Mitochondrial Diseases

Drug-Induced Mitochondrial Dysfunction

Volumn , Issue , 2008, Pages 311-324

  Schon, Eric A ^a   Hirano, Michio ^a   Dimauro, Salvatore ^a  

^a NewYork Presbyterian Hospital   (United States)

Author keywords

Dichloroacetate (DCA) treatment in MELAS; Human nDNA pathogenic mutations in respiratory chain dysfunction; Mitochondrial diseases and drug toxicity

Indexed keywords

EID: 84889467376     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9780470372531.ch11     Document Type: Chapter

References (53)

1. DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med. 2003;348:2656-2668.
2. Smeitink JA, van den Heuvel LW, Koopman WJ, Nijtmans LG, Ugalde C, Willems PH. Cell biological consequences of mitochondrial NADH:ubiquinone oxidoreductase deficiency. Curr Neurovasc Res. 2004;1:29-40.
3. Carelli V, Ross-Cisneros FN, Sadun AA. Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res. 2004;23:53-89.
4. Andreu AL, Hanna MG, Reichmann H, et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med. 1999;341:1037-1044.
5. Fischel-Ghodsian N. Mitochondrial deafness. Ear Hear. 2003;24:303-313.
6. Janssen RJ, Nijtmans LG, van den Heuvel LP, Smeitink JA. Mitochondrial complex:I. Structure, function and pathology. J Inherit Metab Dis. 2006;29:499-515.
7. Favier J, Briere JJ, Strompf L, et al. Network PN: hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency. Hormone Res. 2005;63:171-179.
8. Mollet J, Giurgea I, Schlemmer D, et al. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J Clin Invest. 2007;117 :765-772.
9. Lopez LC, Schuelke M, Quinzii CM, et al. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet. 2006;79:1125-1129.
10. Gempel K, Topaloglu H, Talim B, et al. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain. 2007;130:2037-2044.
11. Quinzii CM, Kattah AG, Naini A, Akman HO, Mootha VK, DiMauro S, Hirano M. Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology. 2005;64:539-541.
12. Schlame M, Ren M. Barth syndrome, a human disorder of cardiolipin metabolism. FEBS Lett. 2006;580:5450-5455.
13. Spinazzola A, Viscomi C, Fernandez-Vizarra E, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet. 2006;38:570-575.
14. Scheper GC, van der Klok T, van Andel RJ, et al. Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat Genet. 2007;39:534-539.
15. Waterham HR, Koster J, van Roermund CW, Mooyer PA, Wanders RJ, JV. Leonard. A lethal defect of mitochondrial and peroxisomal fission. N Engl J Med. 2007;356:1746-1741.
16. Mayr JA, Merkel O, Kohlwein SD, et al. Mitochondrial phosphate-carrier deficiency:a novel disorder of oxidative phosphorylation. Am J Hum Genet. 2007;80:478-484.
17. Martin W, Hoffmeister M, Rotte C, Henze K. An overview of endosymbiotic models for the origins of eukaryotes, their ATP-producing organelles (mitochondria and hydrogenosomes), and their heterotrophic lifestyle. Biol Chem. 2001;382:1521-1539.
18. von Rechenberg HK, Batz K. Drei Falle von Blutdyskrasien nach Chloramphenicolbehandlung. Praxis. 1966;55:214-216.
19. Burk A, Douzery EJP, Springer MS. The secondary structure of mammalian mitochondrial 16S rRNA molecules: refinements based upon a comparative phylogenetic approach. J Mammal Evol. 2002;9:225-243.
20. Matassova NB, Rodnina MV, Endermann R, et al. Ribosomal RNA is the target for oxazolidinones, a novel class of translational inhibitors. RNA. 1999;5:939-946.
21. Colca JR, McDonald WG, Waldon DJ, et al. Cross-linking in the living cell locates the site of action of oxazolidinone antibiotics. J Biol Chem. 2003;278:21972-21979.
22. Swaney SM, Aoki H, Ganoza MC, Shinabarger DL. The oxazolidinone linezolid inhibits initiation of protein synthesis in bacteria. Antimicrob Agents Chemother. 1998;42:3251-3255.
23. Hutchin T, Cortopassi G. Proposed molecular and cellular mechanism for aminoglycoside ototoxicity. Antimicrob Agents Chemother. 1994;38:2517-2520.
24. Karahalios P, Kalpaxis DL, Fu H, Katz L, Wilson DN, Dinos GP. On the mechanism of action of 9-O-arylalkyloxime derivatives of 6-O-mycaminosyltylonolide, a new class of 16-membered macrolide antibiotics. Mol Pharmacol. 2006;70:1271-1280.
25. Selimoglu E. Aminoglycoside-induced ototoxicity. Curr Pharm Des. 2007;13:119-126.
26. Xing G, Chen Z, Cao X. Mitochondrial rRNA and tRNA and hearing function. Cell Res. 2007;17:227-239.
27. Luca CC, Lam BL, Moraes CT. Erythromycin as a potential precipitating agent in the onset of Leber's hereditary optic neuropathy. Mitochondrion. 2004;4:31-36.
28. Howell N, Lee A. Sequence analysis of mouse mitochondrial chloramphenicolresistant mutants. Somat Cell Mol Genet. 1989;15:237-244.
29. Palenzuela L, Hahn NM, Nelson RP, Jr., et al. Does linezolid cause lactic acidosis by inhibiting mitochondrial protein synthesis? Clin Infect Dis. 2005;40:e113-6.
30. Carson J, Cerda J, Chae JH, Hirano M, Maggiore P. Severe lactic acidosis associated with linezolid use in a patient with the mitochondrial DNA A2706G polymorphism. Pharmacotherapy. 2007;27:771-774.
31. Bonora MG, Solbiati M, Stepan E, et al. Emergence of linezolid resistance in the vancomycin-resistant Enterococcus faecium multilocus sequence typing C1 epidemic lineage. J Clin Microbiol. 2006;44:1153-1155.
32. De Stefano N, Matthews PM, Ford B, Genge A, Karpati G, Arnold DL. Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders. Neurology. 1995;45:1193-1198.
33. Taivassalo T, Matthews PM, De Stefano N, et al. Combined aerobic training and dichloroacetate improve exercise capacity and indices of aerobic metabolism in muscle cytochrome oxidase deficiency. Neurology. 1996;47:529-534.
34. Mori M, Yamagata T, Goto T, Saito S, Momoi MY. Dichloroacetate treatment for mitochondrial cytopathy: long-term effects in MELAS. Brain Dev. 2004;26:453-458.
35. Kaufmann P, Engelstad K, Wei Y, et al. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology. 2006;66:324-330.
36. Bonnet S, Archer SL, Allalunis-Turner J, et al. A mitochondria-K+ channel axis is suppressed in cancer and its normalization promotes apoptosis and inhibits cancer growth. Cancer Cell . 2007;11:37-51.
37. Quade A, Zierz S, Klingmuller D. Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia. Clin Invest. 1992;70:396-402.
38. Kirpichnikov D, McFarlane SI, Sowers JR. Metformin: an update. Ann Intern Med. 2002;137:25-33.
39. Owen MR, Doran E, Halestrap AP. Evidence that metformin exerts its anti-diabetic effects through inhibition of complex 1 of the mitochondrial respiratory chain. Biochem J. 2000;348(pt 3): 607-614.
40. De Sanctis V, Calzolari F, Piazzi A, Berio A. Sindrome di Kearns-Sayre e dif`etto di GH ipofisario [Kearns-Sayre syndrome associated with growth hormone deficiency]. Pediatr Med Chir. 2003;25:447-451.
41. Schwabe MJ, Dobyns WB, Burke B, Armstrong DL. Valproate-induced liver failure in one of two siblings with Alpers' disease. Pediatr Neurol. 1997;16:337-343.
42. Wu SP, Shyu MK, Liou HH, Gau CS, Lin CJ. Interaction between anticonvulsants and human placental carnitine transporter. Epilepsia. 2004;45:204-210.
43. Hargreaves IP, Duncan AJ, Heales SJ, Land JM. The effect of HMG-CoA reductase inhibitors on coenzyme Q10: possible biochemical/clinical implications. Drug Saf. 2005;28:659-676.
44. Bargossi AM, Grossi G, Fiorella PL, Gaddi A, Di Giulio R, Battino M. Exogenous CoQ10 supplementation prevents plasma ubiquinone reduction induced by HMG-CoA reductase inhibitors. Mol Aspects Med. 1994;15(suppl): S187-S193.
45. Hasegawa H, Matsuoka T, Goto Y, Nonaka I. Strongly succinate dehydrogenasereactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Ann Neurol. 1991;29:601-605.
46. Naini A, Kaufmann P, Shanske S, Engelstad K, De Vivo DC, Schon EA. Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox." J Neurol Sci. 2005;229-230:187-193.
47. Koga Y, Ishibashi M, Ueki I, et al. Effects of l-arginine on the acute phase of strokes in three patients with MELAS. Neurology. 2002;58:827-828.
48. Koga Y, Akita Y, Nishioka J, et al. l-Arginine improves the symptoms of strokelike episodes in MELAS. Neurology. 2005;64:710-712.
49. Koga Y, Akita Y, Junko N, et al. Endothelial dysfunction in MELAS improved by l-arginine supplementation. Neurology. 2006;66:1766-1769.
50. Santra S, Gilkerson RW, Davidson M, Schon EA. Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells. Ann Neurol. 2004;56:662-669.
51. Tanji K, Schon EA, DiMauro S, Bonilla E. Kearns-Sayre syndrome: oncocytic transformation of choroid plexus epithelium. J Neurol Sci. 2000;178:29-36.
52. Tanji K, Vu TH, Schon EA, DiMauro S, Bonilla E. Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system. Ann Neurol. 1999;45:377-383.
53. Tanji K, DiMauro S, Bonilla E. Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome. J Neurol Sci. 1999;166:64-70.