Mitochondrial genome aberrations in skeletal muscle of patients with motor neuron disease

References

• Traub R, Mitsumoto H, Rowland LP. Research advances in amyotrophic lateral sclerosis, 2009–2010. Curr Neurol Neurosci Rep.2011;11:67–77.
   PubMedGoogle Scholar
• van Damme P, Robberecht W. Recent advances in motor neuron disease. Curr Opin Neurol. 2009;22:486–92.
   PubMed Web of Science ®Google Scholar
• Bruijn LI, Miller TM, Cleveland DW. Unravelling the mechanisms involved in motor neuron degeneration in ALS. Annu Rev Neurosci. 2004;27:723–49.
   PubMed Web of Science ®Google Scholar
• Rosen DR, Siddique T, Patterson D, Figlewicz DA, Sapp P, Hentati A, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993;362:59–62.
   PubMed Web of Science ®Google Scholar
• Siddique T, Figlewicz DA, Pericak-Vance MA, Haines JL, Rouleau G, Jeffers AJ, et al. Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med. 1991;324:1381–4.
   PubMed Web of Science ®Google Scholar
• Cleary JO, Wiseman FK, Norris FC, Price AN, Choy M, Tybulewicz VL, et al. Structural correlates of active staining following magnetic resonance microscopy in the mouse brain. Neuroimage. 2011;56:974–83.
   PubMedGoogle Scholar
• Fischer LR, Li Y, Asress SA, Jones DP, Glass JD. Absence of SOD1 leads to oxidative stress in peripheral nerve and causes a progressive distal motor axonopathy. Exp Neurol. 2012;233:163–71.
   PubMed Web of Science ®Google Scholar
• Richter C, Park JW, Ames BN. Normal oxidative damage to mitochondrial and nuclear DNA is extensive. Proc Natl Acad Sci USA. 1988;85:6465–7.
   PubMed Web of Science ®Google Scholar
• Ferrante RJ, Browne SE, Shinobu LA, Bowling AC, Baik MJ, MacGarvey U, et al. Evidence of increased oxidative damage in both sporadic and familial amyotrophic lateral sclerosis. J Neurochem. 1997;69:2064–74.
   PubMed Web of Science ®Google Scholar
• Fitzmaurice PS, Shaw IC, Kleiner HE, Miller RT, Monks TJ, Lau SS, et al. Evidence for DNA damage in amyotrophic lateral sclerosis. Muscle Nerve. 1996 ;19:797–8.
   PubMedGoogle Scholar
• Liu D, Wen J, Liu J, Li L. The roles of free radicals in amyotrophic lateral sclerosis: reactive oxygen species and elevated oxidation of protein, DNA, and membrane phospholipids. Faseb J. 1999;13:2318–28.
   PubMed Web of Science ®Google Scholar
• Bacman SR, Bradley WG, Moraes CT. Mitochondrial involvement in amyotrophic lateral sclerosis: trigger or target? Mol Neurobiol. 2006;33:113–31.
   PubMed Web of Science ®Google Scholar
• Hervias I, Beal MF, Manfredi G. Mitochondrial dysfunction and amyotrophic lateral sclerosis. Muscle Nerve. 2006;33: 598–608.
   PubMed Web of Science ®Google Scholar
• Magrane J, Manfredi G. Mitochondrial function, morphology, and axonal transport in amyotrophic lateral sclerosis. Antioxid Redox Signal. 2009;11:1615–26.
   PubMed Web of Science ®Google Scholar
• Shi P, Gal J, Kwinter DM, Liu X, Zhu H. Mitochondrial dysfunction in amyotrophic lateral sclerosis. Biochim Biophys Acta. 2009;1802:45–51.
   PubMed Web of Science ®Google Scholar
• Menzies FM, Ince PG, Shaw PJ. Mitochondrial involvement in amyotrophic lateral sclerosis. Neurochem Int. 2002;40: 543–51.
   PubMed Web of Science ®Google Scholar
• Sasaki S, Iwata M. Ultrastructural study of synapses in the anterior horn neurons of patients with amyotrophic lateral sclerosis. Neurosci Lett. 1996;204:53–6.
   PubMed Web of Science ®Google Scholar
• Hirano M, Angelini C, Montagna P, Hays AP, Tanji K, Mitsumoto H, et al. Amyotrophic lateral sclerosis with ragged-red fibres. Arch Neurol. 2008;65:403–6.
   PubMedGoogle Scholar
• Borthwick GM, Johnson MA, Ince PG, Shaw PJ, Turnbull DM. Mitochondrial enzyme activity in amyotrophic lateral sclerosis: implications for the role of mitochondria in neuronal cell death. Ann Neurol. 1999;46: 787–90.
   PubMed Web of Science ®Google Scholar
• Comi GP, Bordoni A, Salani S, Franceschina L, Sciacco M, Prelle A, et al. Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann Neurol. 1998;43:110–6.
   PubMedGoogle Scholar
• Zoccolella S, Artuso L, Capozzo R, Amati A, Guerra F, Simone I, et al. Mitochondrial genome large rearrangements in the skeletal muscle of a patient with PMA. Eur J Neurol. 2012;19:63–4.
   PubMed Web of Science ®Google Scholar
• Wiedemann FR, Manfredi G, Mawrin C, Beal MF, Schon EA. Mitochondrial DNA and respiratory chain function in spinal cords of ALS patients. J Neurochem. 2002; 80:616–25.
   PubMed Web of Science ®Google Scholar
• Keeney PM, Bennett JP Jr. ALS spinal neurons show varied and reduced mtDNA gene copy numbers and increased mtDNA gene deletions. Mol Neurodegener. 2010;5:21.
   PubMedGoogle Scholar
• Vielhaber S, Winkler K, Kirches E, Kunz D, Buchner M, Feistner H, et al. Visualization of defective mitochondrial function in skeletal muscle fibres of patients with sporadic amyotrophic lateral sclerosis. J Neurol Sci. 1999;169: 133–9.
   PubMed Web of Science ®Google Scholar
• Dhaliwal GK, Grewal RP. Mitochondrial DNA deletion mutation levels are elevated in ALS brains. Neuroreport. 2000;11:2507–9.
   PubMed Web of Science ®Google Scholar
• Ro LS, Lai SL, Chen CM, Chen ST. Deleted 4977-bp mitochondrial DNA mutation is associated with sporadic amyotrophic lateral sclerosis: a hospital based case-control study. Muscle Nerve. 2003;28:737–43.
   PubMed Web of Science ®Google Scholar
• Vielhaber S, Kunz D, Winkler K, Wiedemann FR, Kirches E, Feistner H, et al. Mitochondrial DNA abnormalities in skeletal muscle of patients with sporadic amyotrophic lateral sclerosis. Brain. 2000;123:1339–48.
   PubMed Web of Science ®Google Scholar
• Wiedemann FR, Winkler K, Kuznetsov AV, Bartels C, Vielhaber S, Feistner H, et al. Impairment of mitochondrial function in skeletal muscle of patients with amyotrophic lateral sclerosis. J Neurol Sci. 1998;156:65–72.
   PubMed Web of Science ®Google Scholar
• Luisa Conforti F, Sprovieri T, Mazzei R, Patitucci A, Ungaro C, Zoccolella S, et al. Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy. Amyotroph Lateral Scler. 2009;10: 58–60.
   PubMed Web of Science ®Google Scholar
• Pedersen WA, Fu W, Keller JN, Markesbery WR, Appel S, Smith RG, et al. Protein modification by the lipid peroxidation product 4-hydroxynonenal in the spinal cords of amyotrophic lateral sclerosis patients. Ann Neurol. 1998; 44:819–24.
   PubMed Web of Science ®Google Scholar
• Rothfuss O, Gasser T, Patenge N. Analysis of differential DNA damage in the mitochondrial genome employing a semi-long run real-time PCR approach. Nucleic Acids Res. 2010;38:24.
   PubMed Web of Science ®Google Scholar
• Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) method. Methods. 2001;25:402–8.
   PubMed Web of Science ®Google Scholar
• Simpson EP, Yen AA, Appel SH. Oxidative stress: a common denominator in the pathogenesis of amyotrophic lateral sclerosis. Curr Opin Rheumatol. 2003;15:730–6.
   PubMed Web of Science ®Google Scholar
• Andrus PK, Fleck TJ, Gurney ME, Hall ED. Protein oxidative damage in a transgenic mouse model of familial amyotrophic lateral sclerosis. J Neurochem. 1998;71: 2041–8.
   PubMed Web of Science ®Google Scholar
• Bowling AC, Schulz JB, Brown RH Jr, Beal MF. Superoxide dismutase activity, oxidative damage, and mitochondrial energy metabolism in familial and sporadic amyotrophic lateral sclerosis. J Neurochem. 1993;61: 2322–5.
   PubMed Web of Science ®Google Scholar
• Hall ED, Andrus PK, Oostveen JA, Fleck TJ, Gurney ME. Relationship of oxygen radical-induced lipid peroxidative damage to disease onset and progression in a transgenic model of familial ALS. J Neurosci Res. 1998; 53:66–77.
   PubMed Web of Science ®Google Scholar
• Pesaresi MG, Amori I, Giorgi C, Ferri A, Fiorenzo P, Gabanella F, et al. Mitochondrial redox signalling by p66Shc mediates ALS-like disease through Rac1 inactivation. Hum Mol Genet. 2011;20:4196–208.
   PubMed Web of Science ®Google Scholar
• Weissman L, de Souza-Pinto NC, Stevnsner T, Bohr VA. DNA repair, mitochondria, and neurodegeneration. Neuroscience. 2007;145:1318–29.
   PubMed Web of Science ®Google Scholar