Frameshift, nonsense and non amino acid altering mutations in SOD1 in familial ALS: Report of a Japanese pedigree and literature review

Amyotrophic Lateral Sclerosis

Volumn 1, Issue 4, 2000, Pages 251-258

  Watanabe, Yasuhiro ^a   Kato, Shinsuke ^a   Adachi, Yoshiki ^a   Nakashima, Kenji ^a  

^a TOTTORI UNIVERSITY   (Japan)

Author keywords

deletion; insertion; non coding region; truncated protein

Indexed keywords

COPPER ZINC SUPEROXIDE DISMUTASE; SUPEROXIDE DISMUTASE;

AMYOTROPHIC LATERAL SCLEROSIS; CASE REPORT; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; GENETICS; HUMAN; JAPAN; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POINT MUTATION; REVIEW; STOP CODON;

AMYOTROPHIC LATERAL SCLEROSIS; CODON, NONSENSE; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; HUMANS; JAPAN; MALE; MIDDLE AGED; MUTATION; PEDIGREE; POINT MUTATION; SUPEROXIDE DISMUTASE;

EID: 0034278956     PISSN: 17482968     EISSN: 1471180X     Source Type: Journal    
DOI: 10.1080/14660820050515070     Document Type: Review

References (33)

1. Takahashi K, Nakamura H, Okada E. Hereditary amyotrophic lateral sclerosis. Histochemical and electron microscopic study of hyaline inclusions in motor neurons. Arch Neurol 1972; 27: 292-299.
2. Pramatarova A, Goto J, Nanba E, et al. A two base pair deletion in the SOD 1 gene causes familial amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 2061-2062. (Pubitemid 24341387)
3. Nakashima K, Watanabe Y, Kuno N, Nanba E, Takahashi K. Abnormality of Cu/Zn superoxide dismutase (SOD1) activity in Japanese familial amyotrophic lateral sclerosis with two base pair deletion in the SOD1 gene. Neurology 1995; 45: 1019-1020.
4. Watanabe Y, Kono Y, Nanba E, et al. The absence of abnormal Cu/Zn superoxide dismutase (SOD1) in familial amy-otrophic lateral sclerosis with two base pair deletion in the SOD1 gene. In: Nakano I, Hirano A, eds. Amyotrophic Lateral Sclerosis: Progress and perspectives in basic research and clinical application. Amsterdam: Elsevier, 1995: 281-284.
5. Watanabe Y, Kuno N, Kono Y, et al. Absence of the mutant SOD1 in familial amyotrophic lateral slerosis (FALS) with two base pair deletion in the SOD1 gene. Acta Neurol Scand 1997; 95: 167-172. (Pubitemid 27149406)
6. Watanabe Y, Kono Y, Nanba E, Ohama E, Nakashima K. Instability of expressed Cu/Zn superoxide dismutase with 2 bp deletion found in familial amyotrophic lateral sclerosis. FEBS Lett 1997; 400: 108-112. (Pubitemid 27046831)
7. Yim MB, Kang JH, Yim HS, Kwak HS, Chock PB, Stadtman ER. A gain-of-function of an amyotrophic lateral sclerosis-associated Cu,Zn superoxide dismutase mutant: An enhancement of free radical formation due to a decrease in Km for hydrogen peroxide. Proc Natl Acad Sci USA 1996; 93: 5709-5714. (Pubitemid 26190744)
8. Beckman JS, Carson M, Smith CD, Koppenol WH. ALS, SOD and peroxynitrite. Nature 1993; 364: 584.
9. Kato S, Shimoda M, Morita T, et al. Neuropathology of familial ALS with a mutation of the superoxide dismutase 1 gene. In: Nakano I, Hirano A, eds. Amyotrophic Lateral Sclerosis: Progress and perspectives in basic research and clinical application. Amsterdam: Elsevier, 1995: 117-122.
10. Kato S, Shimoda M, Watanabe Y, Nakashima K, Takahashi K, Ohama E. Familial amyotrophic lateral sclerosis with a two base pair deletion in superoxide dismutase 1 gene: multisystem degeneration with intracytoplasmic hyaline inclusions in astrocytes. J Neuropathol Exp Neurol 1996; 55: 1089-1101. (Pubitemid 26338021)
11. Kawamata J, Shimohama S, Hasegawa H, Imura T, Kimura J, Ueda K. Deletion and point mutations in superoxide dismu-tase-1 gene in amyotrophic lateral sclerosis. In: Nakano I, Hirano A, eds. Amyotrophic Lateral Sclerosis: Progress and perspectives in basic research and clinical application. Amsterdam: Elsevier, 1995: 276-280.
12. Kadekawa J, Fujimura H, Ogawa Y, et al. A clinicopathologi-cal study of a patient with familial amyotrophic lateral sclerosis associated with a two base pair deletion in the copper/zinc superoxide dismutase (SOD1) gene. J Neurol Sci 1997; 152: 226-229.
13. Andersen PM, Nilsson P, Keränen ML, et al. Phenotypic heterogeneity in motor neuron disease patients with CuZn-superoxide dismutase mutations in Scandinavia. Brain 1997; 120: 1723-1737. (Pubitemid 27443049)
14. Orrell RW, Habgood JJ, Gardiner I, et al. Clinical and functional investigation of 10 missense mutations and a novel frameshift insertion mutation of the gene for copper-zinc superoxide dismutase in UK families with amyotrophic lateral sclerosis. Neurology 1997; 48: 746-751. (Pubitemid 27120118)
15. Jackson M, Al-Chalabi A, Enayat ZE, Chioza B, Leigh PN, Morrison KE. Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation. Ann Neurol 1997; 42: 803-807. (Pubitemid 27481554)
16. Hosler BA, Nicholson GA, Sapp PC, et al. Three novel mutations and two variants in the gene for Cu/Zn superoxide dis-mutase in familial amyotrophic lateral sclerosis. Neuromuscul Disord 1996; 6: 361-366. (Pubitemid 26388003)
17. Zu JS, Deng HX, Lo TP, et al. Exon 5 encoded domain is not required for the toxic function of mutant SOD1 but essential for the dismutase activity: identification and characterization of two new SOD1 mutations associated with familial amyotrophic lateral sclerosis. Neurogenetics 1997; 1: 65-71. (Pubitemid 127709611)
18. Sapp PC, Rosen DR, Hosler BA, et al. Identification of three novel mutations in the gene for Cu/Zn superoxide dismutase in patients with familial amyotrophic lateral sclerosis. Neuromuscul Disord 1995; 5: 353-357.
19. Boukaftane Y, Khoris J, Moulard B, et al. Identiication of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis. Can J Neurol Sci 1998; 25: 192-196. (Pubitemid 28368793)
20. Shaw PJ, Tomkins J, Slade JY, et al. CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND). Neuroreport 1997; 8: 3923-3927. (Pubitemid 28027210)
21. Ince PG, Tomkins J, Slade JY, Thatcher NM, Shaw PJ. Amy-otrophic lateral sclerosis associated with genetic abnormalities in the gene encoding Cu/Zn superoxide dismutase: molecular pathology of ive new cases, and comparison with previous reports and 73 sporadic cases of ALS. J Neuropathol Exp Neurol 1998; 57: 895-904. (Pubitemid 28478000)
22. Ogawa Y, Kosaka H, Nakanishi T, et al. Stability of mutant superoxide dismutase-1 associated with familial amy-otrophic lateral sclerosis determines the manner of copper release and induction of thioredoxin in erythrocytes. Biochem Biophys Res Commun 1997; 241: 251-257. (Pubitemid 28020088)
23. Koide T, Igarashi S, Kikugawa K, et al. Formation of granular cytoplasmic aggregates in COS7 cells expressing mutant Cu/Zn superoxide dismutase associated with familial amy-otrophic lateral sclerosis. Neurosci Lett 1998; 257: 29-32. (Pubitemid 28546897)
24. Ratovitski T, Corson LB, Strain J, et al. Variation in the biochemical/biophysical properties of mutant superoxide dis- mutase 1 enzymes and the rate of disease progression in familial amyotrophic lateral sclerosis kindreds. Hum Mol Genet 1999; 8: 1451-1460. (Pubitemid 29374078)
25. Borchelt DR, Lee MK, Slunt HS, et al. Superoxide dismutase 1 with mutations linked to familial amyotrophic lateral sclerosis possesses signiicant activity. Proc Natl Acad Sci USA 1994; 91: 8292-8296. (Pubitemid 24253933)
26. Nakano R, Inuzuka T, Kikugawa K, et al. Instability of mutant Cu/Zn superoxide dismutase (Ala4Thr) associated with familial amyotrophic lateral sclerosis. Neurosci Lett 1996; 211: 129-131. (Pubitemid 26244693)
27. Siddique T, Nijhawan D, Hentati A. Familial amyotrophic lateral sclerosis. J Neural Transm 1997; 49(suppl): 219-233. (Pubitemid 27351490)
28. Radunović A, Leigh PN. Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features. J Neurol Neurosurg Psychiatry 1996; 61: 565-572. (Pubitemid 27023331)
29. Andersen PM, Nilsson P, Ala-Hurula V, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in Cu/Zn superoxide dismutase. Nature Genet 1995; 10: 61-66.
30. Brown RH Jr. SOD1 aggregates in ALS: cause, correlate or consequence? Nat Med 1998; 4: 1362-1364.
31. Wiedeau-Pazos M, Goto JJ, Rabizadeh S, et al. Altered reactivity of superoxide dismutase in familial amyotrophic lateral sclerosis. Science 1996; 271: 515-518. (Pubitemid 26044472)
32. Rabizadeh S, Gralla EB, Borchelt DR, et al. Mutations associated with amyotrophic lateral sclerosis convert superoxide dismutase from an antiapoptotic gene: studies in yeast and neural cells. Proc Natl Acad Sci USA 1995; 92: 3024-3028.
33. Hottinger AF, Fine EG, Gurney ME, Zurn AD, Aebischer P. The copper chelator d-penicillamine delays onset of disease and extends survival in a transgenic mouse model of familial amyotrophic lateral sclerosis. Eur J Neurosci 1997; 9: 1548-1551. (Pubitemid 27303257)