Localization of a toxic form of superoxide dismutase 1 protein to pathologically affected tissues in familial ALS

Proceedings of the National Academy of Sciences of the United States of America

Volumn 109, Issue 14, 2012, Pages 5505-5510

  Brotherton, Terrell E ^a   Li, Yingjie ^a   Cooper, Deborah ^a   Gearing, Marla ^a   Julien, Jean Pierre ^b   Rothstein, Jeffrey D ^c   Boylan, Kevin ^d   Glass, Jonathan D ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITÉ LAVAL   (Canada)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d MAYO CLINIC   (United States)

Author keywords

Aggregate; Misfold; Soluble

Indexed keywords

C4F6 MONOCLONAL ANTIBODY; COPPER ZINC SUPEROXIDE DISMUTASE; MONOCLONAL ANTIBODY; UNCLASSIFIED DRUG;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOPSY; CONTROLLED STUDY; DEGENERATIVE DISEASE; ENZYME LOCALIZATION; FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MOTONEURON; MOUSE; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; RAT; SPINAL CORD;

AMYOTROPHIC LATERAL SCLEROSIS; HUMANS; MUTATION; PROTEIN FOLDING; SUPEROXIDE DISMUTASE;

ANIMALIA; RODENTIA;

EID: 84859452121     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1115009109     Document Type: Article

References (38)

1. Worms PM (2001) The epidemiology of motor neuron diseases: A review of recent studies. J Neurol Sci 191(1-2):3-9.
2. Logroscino G, et al.; EURALS (2010) Incidence of amyotrophic lateral sclerosis in Europe. J Neurol Neurosurg Psychiatry 81:385-390.
3. Logroscino G, et al. (2008) Descriptive epidemiology of amyotrophic lateral sclerosis: New evidence and unsolved issues. J Neurol Neurosurg Psychiatry 79(1):6-11.
4. Millul A, et al. (2005) Survival of patients with amyotrophic lateral sclerosis in a population- based registry. Neuroepidemiology 25(3):114-119. (Pubitemid 41207063)
5. Beghi E, Millul A, Logroscino G, Vitelli E, Micheli A (2008) Outcome measures and prognostic indicators in patients with amyotrophic lateral sclerosis. Amyotroph Lateral Scler 9(3):163-167. (Pubitemid 351983177)
6. Siddique T, et al. (1991) Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity. N Engl J Med 324:1381-1384.
7. Rosen DR, et al. (1993) Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 362(6415):59-62. (Pubitemid 23087289)
8. Chiò A, et al. (2008) Prevalence of SOD1 mutations in the Italian ALS population. Neurology 70:533-537. (Pubitemid 351653378)
9. Gaudette M, Hirano M, Siddique T (2000) Current status of SOD1 mutations in familial amyotrophic lateral sclerosis. Amyotroph Lateral Scler Other Motor Neuron Disord 1 (2):83-89.
10. Johnston JA, Dalton MJ, Gurney ME, Kopito RR (2000) Formation of high molecular weight complexes of mutant Cu, Zn-superoxide dismutase in a mouse model for familial amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 97:12571-12576.
11. Puttaparthi K, Van Kaer L, Elliott JL (2007) Assessing the role of immuno-proteasomes in a mouse model of familial ALS. Exp Neurol 206(1):53-58. (Pubitemid 46935122)
12. Puttaparthi K, Wojcik C, Rajendran B, DeMartino GN, Elliott JL (2003) Aggregate formation in the spinal cord of mutant SOD1 transgenic mice is reversible and mediated by proteasomes. J Neurochem 87:851-860. (Pubitemid 37444561)
13. Rakhit R, et al. (2004) Monomeric Cu, Zn-superoxide dismutase is a common misfolding intermediate in the oxidation models of sporadic and familial amyotrophic lateral sclerosis. J Biol Chem 279:15499-15504. (Pubitemid 38618950)
14. Zetterström P, et al. (2007) Soluble misfolded subfractions of mutant superoxide dismutase-1s are enriched in spinal cords throughout life in murine ALS models. Proc Natl Acad Sci USA 104:14157-14162. (Pubitemid 350003351)
15. Rakhit R, et al. (2002) Oxidation-induced misfolding and aggregation of superoxide dismutase and its implications for amyotrophic lateral sclerosis. J Biol Chem 277: 47551-47556. (Pubitemid 36159274)
16. Ezzi SA, Urushitani M, Julien JP (2007) Wild-type superoxide dismutase acquires binding and toxic properties of ALS-linked mutant forms through oxidation. J Neurochem 102(1):170-178. (Pubitemid 46906269)
17. Estévez AG, et al. (1999) Induction of nitric oxide-dependent apoptosis in motor neurons by zinc-deficient superoxide dismutase. Science 286:2498-2500. (Pubitemid 129515968)
18. Banci L, et al. (2007) Metal-free superoxide dismutase forms soluble oligomers under physiological conditions: A possible general mechanism for familial ALS. Proc Natl Acad Sci USA 104:11263-11267. (Pubitemid 47175129)
19. Forsberg K, Andersen PM, Marklund SL, Brännström T (2011) Glial nuclear aggregates of superoxide dismutase-1 are regularly present in patients with amyotrophic lateral sclerosis. Acta Neuropathol 121:623-634.
20. Bosco DA, et al. (2010) Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS. Nat Neurosci 13:1396-1403.
21. Rakhit R, et al. (2007) An immunological epitope selective for pathological monomermis-folded SOD1 in ALS. Nat Med 13:754-759. (Pubitemid 46889748)
22. Liu HN, et al. (2009) Lack of evidence of monomer/misfolded superoxide dismutase-1 in sporadic amyotrophic lateral sclerosis. Ann Neurol 66(1):75-80.
23. Gros-Louis F, Soucy G, Larivière R, Julien JP (2010) Intracerebroventricular infusion of monoclonal antibody or its derived Fab fragment against misfolded forms of SOD1 mutant delays mortality in a mouse model of ALS. J Neurochem 113:1188-1199.
24. Urushitani M, Ezzi SA, Julien JP (2007) Therapeutic effects of immunization with mutant superoxide dismutase in mice models of amyotrophic lateral sclerosis. Proc Natl Acad Sci USA 104:2495-2500. (Pubitemid 46391424)
25. Galaleldeen A, et al. (2009) Structural and biophysical properties of metal-free pathogenic SOD1 mutants A4V and G93A. Arch Biochem Biophys 492(1-2):40-47.
26. Matsumoto G, Stojanovic A, Holmberg CI, Kim S, Morimoto RI (2005) Structural properties and neuronal toxicity of amyotrophic lateral sclerosis-associated Cu/Zn superoxide dismutase 1 aggregates. J Cell Biol 171(1):75-85. (Pubitemid 41434603)
27. Durazo A, et al. (2009) Metal-free superoxide dismutase-1 and three different amyotrophic lateral sclerosis variants share a similar partially unfolded beta-barrel at physiological temperature. J Biol Chem 284:34382-34389.
28. Shaw BF, et al. (2006) Local unfolding in a destabilized, pathogenic variant of superoxide dismutase 1 observed with H/D exchange and mass spectrometry. J Biol Chem 281:18167-18176. (Pubitemid 44035616)
29. Tiwari A, et al. (2009) Metal deficiency increases aberrant hydrophobicity of mutant superoxide dismutases that cause amyotrophic lateral sclerosis. J Biol Chem 284: 27746-27758.
30. Kopito RR (2000) Aggresomes, inclusion bodies and protein aggregation. Trends Cell Biol 10:524-530.
31. Basso M, et al. (2006) Insoluble mutant SOD1 is partly oligoubiquitinated in amyotrophic lateral sclerosis mice. J Biol Chem 281:33325-33335. (Pubitemid 46043260)
32. Basso M, et al. (2009) Characterization of detergent-insoluble proteins in ALS indicates a causal link between nitrative stress and aggregation in pathogenesis. PLoS ONE 4:e8130.
33. Witan H, et al. (2009) Wild-type Cu/Zn superoxide dismutase (SOD1) does not facilitate, but impedes the formation of protein aggregates of amyotrophic lateral sclerosis causing mutant SOD1. Neurobiol Dis 36:331-342.
34. Witan H, et al. (2008) Heterodimer formation of wild-type and amyotrophic lateral sclerosis-causing mutant Cu/Zn-superoxide dismutase induces toxicity independent of protein aggregation. Hum Mol Genet 17:1373-1385. (Pubitemid 351627334)
35. Prudencio M, Durazo A, Whitelegge JP, Borchelt DR (2010) An examination of wild-type SOD1 in modulating the toxicity and aggregation of ALS-associated mutant SOD1. Hum Mol Genet 19:4774-4789.
36. Cohen E, Bieschke J, Perciavalle RM, Kelly JW, Dillin A (2006) Opposing activities protect against age-onset proteotoxicity. Science 313:1604-1610. (Pubitemid 44414028)
37. Bodner RA, et al. (2006) Pharmacological promotion of inclusion formation: a therapeutic approach for Huntington's and Parkinson's diseases. Proc Natl Acad Sci USA 103:4246-4251.
38. Outeiro TF, et al. (2007) Sirtuin 2 inhibitors rescue alpha-synuclein-mediated toxicity in models of Parkinson's disease. Science 317:516-519. (Pubitemid 47196116)