Role of mitochondria in multiple sclerosis

Current Neurology and Neuroscience Reports

Volumn 6, Issue 3, 2006, Pages 244-252

  Kalman, Bernadette ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); HEAT SHOCK PROTEIN 70; HYPOXIA INDUCIBLE FACTOR 1ALPHA; HYPOXIA INDUCIBLE FACTOR 1BETA; MITOCHONDRIAL DNA; RIBOSOME RNA; SODIUM CALCIUM EXCHANGE PROTEIN; TRANSFER RNA;

DEGENERATIVE DISEASE; DEMYELINATING DISEASE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; HUMAN; IMMUNOMODULATION; INFLAMMATORY DISEASE; MITOCHONDRIAL GENETICS; MULTIPLE SCLEROSIS; MUTATIONAL ANALYSIS; NERVE CELL DEGENERATION; NEUROPROTECTION; OLIGODENDROGLIA; OXIDATIVE PHOSPHORYLATION; PHENOTYPIC VARIATION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; STRUCTURE ACTIVITY RELATION;

DNA, MITOCHONDRIAL; HUMANS; INFLAMMATION; MITOCHONDRIA; MULTIPLE SCLEROSIS; MUTATION; OXIDATION-REDUCTION;

EID: 33646758578     PISSN: 15284042     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11910-006-0012-0     Document Type: Review

References (51)

1. Trapp BD, Peterson J, Ransohoff RM, et al.: Axonal transection in the lesions of multiple sclerosis. N Engl J Med 1998, 338:278-285.
2. Bjartmar C, Trapp BD: Axonal and neuronal degeneration in multiple sclerosis: mechanisms and functional consequences. Curr Opin Neurol 2001, 14:271-278.
3. Husted CA, Goodin DS, Hugg JW, et al.: Biochemical alterations in multiple sclerosis lesions and normal-appearing white matter detected by in vivo 31P and 1H spectroscopic imaging. Ann Neurol 1994, 36:157-165.
4. De Stefano N, Matthews PM, Antel JP, et al.: Chemical pathology of acute demyelinating lesions and its correlation with disability. Ann Neurol 1995, 38:901-909.
5. Clark JB: N-acetyl aspartate: a marker for neuronal loss or mitochondrial dysfunction. Dev Neurosci 1998, 20:271-276.
6. DiMauro S, Hirano M: Mitochondrial encephalomyopathies: an update [review]. Neuromusc Disord 2005, 15:276-286.
7. Zamzami N, Kroemer G: The mitochondrion in apoptosis: how Pandora's box opens. Nat Rev Mol Cell Biol 2001, 2:67-71.
8. Schapira LJ: Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear defects. Lancet 2000, 355:389-394.
9. Kalman B, Leist TP: A mitochondrial component of neurodegeneration in multiple sclerosis. Neuromol Med 2003, 3:147-158.
10. Anderson S, Bankier AT, Barrell BG, et al.: Sequence and organization of the human mitochondrial genome. Nature 1981, 290:457-465.
11. Triepels RH, Van Den Heuvel LP, Trijbels JM, Smeitink JA: Respiratory chain complex I deficiency. Am J Med Genet 2001, 106:37-45.
12. Tiranti V, Hoertnagel K, Carrozzo R, et al.: Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 1998, 63:1609-1621.
13. Nishino I, Spinazzola A, Hirano M: Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999, 283:689-692.
14. Ogasahara S, Engel AG, Frens D, Mack D: Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc Natl Acad Sci U S A 1989, 86:2379-2382.
15. Musumeci O, Naini A, Slonim AE, et al.: Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology 2001, 56:849-855.
16. Rahman S, Hargreaves I, Clayton P, Heales S: Neonatal presentation of coenzyme q10 deficiency. J Pediatr 2001, 139:456-458.
17. Vreken P, Valianpour F, Nijtmans LG, et al.: Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome. Biochem Biophys Res Commun 2000, 279:378-382.
18. Kalman B, Lublin FD, Alder H: Impairment of central and peripheral myelin in mitochondrial diseases. Mult Scler 1997, 2:267-278.
19. Sadovnick AD, Bulman D, Ebers GC: Parent-child concordance in multiple sclerosis. Ann Neurol 1991, 29:252-255.
20. Lees F, MacDonald AM, Aldren Turner JW: Leber's disease with symptoms resembling disseminated sclerosis. J Neurol Neurosurg Psychiatry 1964, 27:415-421.
21. Wallace DC, Singh G, Lott MT, et al.: Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988, 242:1427-1430.
22. Johns DR, Neufeld MJ, Park RD: An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem Biophys Res Comm 1992, 187:1551-1557.
23. Mackey D, Howell N: A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet 1992, 51:1218-1228.
24. Harding AE, Sweeney MG, Miller DH, et al.: Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 1992, 115:979-989.
25. Flanigan KM, Johns DR: Association of the 11778 mitochondrial DNA mutation and demyelinating disease. Neurology 1993, 43:2720-2722.
26. Kellar-Wood H, Robertson N, Govan GG, et al.: Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis. Ann Neurol 1994, 36:109-112.
27. Horvath R, Abicht A, Shoubridge EA, et al.: Leber's hereditary optic neuropathy presenting as multiple sclerosis-like disease of the CNS. J Neurol 2000, 247:65-67.
28. Nishimura M, Obayashi H, Ohta M, et al.: No association of the 11778 mitochondrial DNA mutation and multiple sclerosis in Japan. Neurology 1995, 45:1333-1334.
29. Kalman B, Lublin FD, Alder H: Mitochondrial DNA mutations in multiple sclerosis. Mult Scler 1995, 1:32-36.
30. Kalman B, Rodriguez-Valdez JL, Bosch U, Lublin FD: Screening for Leber's hereditary optic neuropathy associated mitochondrial DNA mutations in patients with prominent optic neuritis. Mult Scler 1997, 2:279-282.
31. Kalman B, Li S, Chatterjee D, et al.: Large scale screening of the mitochondrial DNA reveals no pathogenic mutations but a haplotype associated with multiple sclerosis in Caucasians. Acta Neurol Scand 1999, 99:16-25.
32. Hanefeld FA, Ernst BP, Wilichowski E, Christen HJ: Leber's hereditary optic neuropathy mitochondrial DNA mutations in childhood multiple sclerosis. Neuropediatrics 1994, 25:331.
33. Kalman B, Lublin FD, Alder H: Characterization of the mitochondrial DNA in patients with multiple sclerosis. J Neurol Sci 1996, 140:75-84.
34. Kalman B, Mandler RN: Studies of mitochondrial DNA in Devic's disease revealed no pathogenic mutations, but polymorphisms also found in association with multiple sclerosis. Ann Neurol 2002, 51:661-662.
35. Brown MD, Sun F, Wallace DC: Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11,778 or 14,484 mutations on an mtDNA lineage. Am J Hum Genet 1997, 60:381-387.
36. Qi X, Lewin AS, Hauswirth WW, Guy J: Suppression of complex I gene expression induces optic neuropathy. Ann Neurol 2003, 53:198-205.
37. Vyshkina T, Banisor I, Shugart YY, et al.: Genetic variants of Complex I in multiple sclerosis. J Neurol Sci 2005, 228:55-64.
38. Kovacs GG, Hoftberger R, Majtenyi K, et al.: Neuropathology of white matter disease in Leber's hereditary optic neuropathy. Brain 2005, 128:35-41.
39. Baracca A, Solaini G, Sgarbi G, et al.: Severe impairment of Complex I-driven adenosine triphosphate synthesis in Leber Hereditary Optic Neuropathy Cybrids. Arch Neurol 2005, 62:730-736.
40. Smith PR, Cooper JM, Govan GG, et al.: Antibodies to human optic nerve in Leber's hereditary optic neuropathy. J Neurol Sci 1995, 130:134-138.
41. Vladimirova O, O'Connor J, Cahill A, et al.: Oxidative damage to DNA in plaques of MS brains. Mult Scler 1998, 4:413-418.
42. Cross AH, Manning PT, Stern MK, Misko TP: Evidence for the production of peroxynitrite in inflammatory CNS demyelination. J Neuroimmunol 1997, 80:121-130.
43. Lu F, Selak M, O'Connor J, et al.: Oxidative damage to mitochondrial DNA and activity of mitochondrial enzymes in chronic active lesions of multiple sclerosis. J Neurol Sci 2000, 177:95-103.
44. Lucchinetti C, Bruck W, Parisi J, et al.: Heterogeneity of multiple sclerosis lesions: implications for the pathogenesis of demyelination. Ann Neurol 2000, 47:707-717.
45. Aboul-Enein F, Lassmann H: Mitochondrial damage and histotoxic hypoxia: a pathway of tissue injury in inflammatory brain disease? Acta Neuropathol 2005, 109:49-55.
46. Stadelmann C, Ludwin S, Tabira T, et al.: Tissue preconditioning may explain concentric lesions in Balo's type of multiple sclerosis. Brain 2005, 128:979-987.
47. Andrews HE, Nichols PP, Bates D, Turnbull DM: Mitochondrial dysfunction plays a key role in progressive axonal loss in multiple sclerosis. Med Hypothesis 2005, 64:669-677.
48. Perieir O, Gregoire A: Electron microscopic features of multiple sclerosis lesions. Brain 1965, 88:937-952.
49. Griffiths I, Klugmann M, Anderson T, et al.: Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. Science 1998, 280:1610-1613.
50. Craner ML Newcombe J, Black JA, et al.: Molecular changes in neurons in multiple sclerosis: altered axonal expression of Nav1.2 and Nav1.6 sodium channels and Na+/Ca2+ exchanger. Proc Natl Acad Sci U S A 2004, 101:8168-8173.
51. Dutta R, McDonough J, Yin X, et al.: Mitochondrial dysfunction as a cause of axonal degeneration in multiple sclerosis patients. Ann Neurol 2006, 59:478-489.