No excess of mitochondrial DNA deletions within muscle in progressive multiple sclerosis

Multiple Sclerosis Journal

Volumn 19, Issue 14, 2013, Pages 1858-1866

  Campbell, Graham R ^a   Reeve, Amy K ^b   Ziabreva, Iryna ^b   Reynolds, Richard ^c   Turnbull, Doug M ^b   Mahad, Don J ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

Mitochondria; multiple sclerosis; muscle

Indexed keywords

CYCLOOXYGENASE 1; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; SUCCINATE DEHYDROGENASE (UBIQUINONE);

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COMPLEX II DEFICIENCY; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; ENZYME ACTIVITY; FEMALE; GENE DELETION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; LASER MICRODISSECTION; MALE; MULTIPLE SCLEROSIS; MUSCLE CELL; REAL TIME POLYMERASE CHAIN REACTION; RESPIRATORY CHAIN;

MITOCHONDRIA; MULTIPLE SCLEROSIS; MUSCLE;

ADULT; AGED; AGED, 80 AND OVER; CASE-CONTROL STUDIES; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT CHAIN COMPLEX PROTEINS; FEMALE; GENE DELETION; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MITOCHONDRIA, MUSCLE; MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE; MUSCLE, SKELETAL; REAL-TIME POLYMERASE CHAIN REACTION;

EID: 84888624065     PISSN: 13524585     EISSN: 14770970     Source Type: Journal    
DOI: 10.1177/1352458513490547     Document Type: Article

References (31)

1. Dutta R, Trapp BD. Mechanisms of neuronal dysfunction and degeneration in multiple sclerosis. Prog Neurobiol. 2011 ; 93: 1-12
2. Broadwater L, Pandit A, Clements R, et al. Analysis of the mitochondrial proteome in multiple sclerosis cortex. Biochim Biophys Acta. 2011 ; 1812: 630-641
3. Campbell GR, Ziabreva I, Reeve AK, et al. Mitochondrial DNA deletions and neurodegeneration in multiple sclerosis. Ann Neurol. 2011 ; 69: 481-492
4. 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
5. Witte ME, Nijland PG, Drexhage JA, et al. Reduced expression of PGC-1alpha partly underlies mitochondrial changes and correlates with neuronal loss in multiple sclerosis cortex. Acta Neuropathol. 2013 ; 125: 231-243
6. Rahman S, Hanna MG. Diagnosis and therapy in neuromuscular disorders: Diagnosis and new treatments in mitochondrial diseases. J Neurol Neurosurg Psychiatry. 2009 ; 80: 943-953
7. Rahman S, Lake BD, Taanman JW, et al. Cytochrome oxidase immunohistochemistry: Clues for genetic mechanisms. Brain. 2000 ; 123 (Pt 3). 591-600
8. Campbell GR, Kraytsberg Y, Krishnan KJ, et al. Clonally expanded mitochondrial DNA deletions within the choroid plexus in multiple sclerosis. Acta Neuropathol. 2012 ; 124: 209-220
9. Campbell GR, Mahad DJ. Clonal expansion of mitochondrial DNA deletions and the progression of multiple sclerosis. CNS Neurol Disord Drug Targets. 2012 ; 11: 589-597
10. Larsson NG. Somatic mitochondrial DNA mutations in mammalian aging. Annu Rev Biochem. 2010 ; 79: 683-706
11. McFarland R, Taylor RW, Turnbull DM. A neurological perspective on mitochondrial disease. Lancet Neurol. 2010 ; 9: 829-840
12. Johnson MA, Bindoff LA, Turnbull DM. Cytochrome c oxidase activity in single muscle fibers: Assay techniques and diagnostic applications. Ann Neurol. 1993 ; 33: 28-35
13. Krishnan KJ, Bender A, Taylor RW, et al. A multiplex real-time PCR method to detect and quantify mitochondrial DNA deletions in individual cells. Anal Biochem. 2007 ; 370: 127-129
14. Yu-Wai-Man P, Lai-Cheong J, Borthwick GM, et al. Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles. Invest Ophthalmol Vis Sci. 2010 ; 51: 3347-3353
15. Reeve AK, Krishnan KJ, Elson JL, et al. Nature of mitochondrial DNA deletions in substantia nigra neurons. Am J Hum Genet. 2008 ; 82: 228-235
16. 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 (Pt 4). 979-989
17. Horvath R, Hudson G, Ferrari G, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain. 2006 ; 129: 1674-1684
18. Palace J. Multiple sclerosis associated with Leber's Hereditary Optic Neuropathy. J Neurol Sci. 2009 ; 286: 24-27
19. Taylor RW, Chinnery PF, Bates MJ, et al. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: Studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis. Biochem Biophys Res Commun. 1998 ; 243: 47-51
20. Verny C, Loiseau D, Scherer C, et al. Multiple sclerosis-like disorder in OPA1-related autosomal dominant optic atrophy. Neurology. 2008 ; 70: 1152-1153
21. Nociti V, Fasano A, Bentivoglio AR, et al. Tourettism in multiple sclerosis: A case report. J Neurol Sci. 2009 ; 287: 288-290
22. Patte M, Rouher FN, Vernay D, et al. Proliferative retinal vasculitis and multiple sclerosis: A case report. J Fr Ophtalmol. 2003 ; 26: 381-385
23. Campbell GR, Reeve A, Ziabreva I, et al. Mitochondrial DNA deletions and depletion within paraspinal muscles. Neuropathol Appl Neurobiol. 2013 ; 39: 377-389
24. Sakiyama Y, Okamoto Y, Higuchi I, et al. A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy. Acta Neuropathol. 2011 ; 121: 775-783
25. Kumleh HH, Riazi GH, Houshmand M, et al. Complex I deficiency in Persian multiple sclerosis patients. J Neurol Sci. 2006 ; 243: 65-69
26. Mahler A, Steiniger J, Bock M, et al. Is metabolic flexibility altered in multiple sclerosis patients?. PloS One. 2012 ; 7: e43675
27. Abadi A, Glover EI, Isfort RJ, et al. Limb immobilization induces a coordinate down-regulation of mitochondrial and other metabolic pathways in men and women. PloS One. 2009 ; 4: e6518
28. Brierley EJ, Johnson MA, James OF, et al. Effects of physical activity and age on mitochondrial function. QJM. 1996 ; 89: 251-258
29. Murphy JL, Blakely EL, Schaefer AM, et al. Resistance training in patients with single, large-scale deletions of mitochondrial DNA. Brain. 2008 ; 131: 2832-2840
30. Parise G, Brose AN, Tarnopolsky MA. Resistance exercise training decreases oxidative damage to DNA and increases cytochrome oxidase activity in older adults. Exp Gerontol. 2005 ; 40: 173-180
31. Witte ME, Geurts JJ, de Vries HE, et al. Mitochondrial dysfunction: A potential link between neuroinflammation and neurodegeneration?. Mitochondrion. 2010 ; 10: 411-418