Advanced search
Publication Cover
Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders Volume 4, 2003 - Issue 2
Journal homepage
629
Views
197
CrossRef citations to date
0
Altmetric
Original research

Sixteen novel mutations in the Cu/Zn superoxide dismutase gene in amyotrophic lateral sclerosis: a decade of discoveries, defects and disputes

Peter M Andersen Cecil B Day Laboratory for Neuromuscular ResearchCorrespondence[email protected]
,
Katherine B Sims Neurogenetics DNA Diagnostic Laboratory, Department of Neurology, Massachusetts General Hospital East and Harvard Medical School, Charlestown, MA, USA
,
Winnie W Xin Department of Neurology, Umeå University Hospital, S‐901 85 Umeå, Sweden
,
Rosemary Kiely Department of Neurology, Virginia Mason Medical Center, Seattle, WA, USA
,
Gilmore O'Neill Department of Neurology, Cleveland Clinic Foundation, Cleveland, OH, USA
,
John Ravits Veterans Affairs Medical Center, Department of Neurology, Baylor College of Medicine, Houston, TX, USA
,
Erik Pioro Division of Neurology, University Health Sciences Center at El Paso, TX, USA
,
Yadollah Harati Neurology, 10, 400 Vista del Sol, El Paso, TX, USA
,
Richard D Brower Oates & Heinicke, Louisville, KY, USA
,
Johanan S Levine Athena Diagnostics, Worcester, MA, USA
,
Hedvika U Heinicke Cecil B Day Laboratory for Neuromuscular Research
,
William Seltzer Neurogenetics DNA Diagnostic Laboratory, Department of Neurology, Massachusetts General Hospital East and Harvard Medical School, Charlestown, MA, USA
,
Michael Boss Department of Neurology, Umeå University Hospital, S‐901 85 Umeå, Sweden
&
Robert H Brown, Jr Department of Neurology, Virginia Mason Medical Center, Seattle, WA, USA
 show all
Pages 62-73 | Received 22 Apr 2003, Accepted 12 May 2003, Published online: 10 Jul 2009

References

  • Rosen DR, Siddique T, Patterson D et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyo- trophic lateral sclerosis. Nature 1993; 362: 59–62.
  • Andersen PM, Morita M, Brown RH, Jr. Genetics of amyotrophic lateral sclerosis: an overview, pp 223–250. In: Amyotrophic Lateral Sclerosis, edited by RH Brown Jr, V Meininger and M Swash. Martin Dunitz Publishers Ltd, London, 1999.
  • Andersen PM, Nilsson P, Kera¨nen M-L et al. Phenotypic heterogeneity in MND-patients with Cu/Zn superoxide dismutase mutations in Scandinavia. Brain 1997; 10: 1723–1737.
  • Cudkowicz ME, McKenna-Yusen D, Asp PE et al. Epidemiology of mutations in superoxide dismutase in amyotrophic lateral sclerosis. Ann Neurol 1997; 2: 210–221.
  • Shaw CE, Enayat ZE, Chioza BA et al. Mutations in all five exons of SOD1 may cause ALS. Ann Neurol 1998; 43: 390–394.
  • Boukaftane Y, Khoris J, Moulard B et al. Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis. Can J Neurol Sci 1998; 25: 192–196.
  • Jones CT, Swingler RJ, Simpson SA, Brock DJH. Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients. J Med Genet 1995; 32: 290–292.
  • Jackson M, Al-Chalabi A, Enayat ZE et al. Cu/Zn 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.
  • Osler W. On heredity in progressive muscular atrophy as illustrated in the Farr family of Vermont. Arch Med 1880; 4: 316–320.
  • Garcia-Redondo A, Bustos F, Juan Y et al. Molecular analysis of the SOD1 gene in Spanish patients with sporadic or familial ALS. Muscle Nerve 2002; 26: 274–278.
  • Esteban J, Rosen DR, Bowling AC et al. Identification of two mutations and a new polymorphism in the gene for Cu/Zn superoxide dismutase in patients with amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 997–998.
  • Nakanishi T, Kishikawa M, Miyazaki A et al. Simple and defined method to detect SOD1 mutants from patients with familial amyotrophic lateral sclerosis by mass spectrometry. J Neurosci Methods 1998; 81: 41–44.
  • Nakano R, Sato S, Inuzuka T et al. A novel mutation in Cu/Zn superoxide dismutase gene in Japanese familial amyo- trophic lateral sclerosis. Bichem Biophys Res Com 1994; 200: 695–703.
  • Deng H-X, Hentati A, Tainer JA et al. Amyotrophic lateral sclerosis and structural defects in Cu/Zn superoxide dismutase. Science 1993; 261: 1047–1051.
  • Morita M, Aoki M, Abe K et al. A novel two-base mutation in the Cu/Zn superoxide dismutase gene associated with familial ALS in Japan. Neurosci Lett 1996; 205: 79–82.
  • Kohno S, Takahashi Y, Miyajima H et al. A novel mutation (Cys6Gly) in the Cu/Zn superoxide dismutase gene associated with rapidly progressing familial amyotrophic lateral sclerosis. Neurosci Lett 1999; 276: 135–137.
  • Hirano M, Fujii J, Nagai Y et al. A new variant Cu/Zn superoxide dismutase (Val7 Glu) deduced from lymphocyte mRNA sequences from Japanese patients with familial amyotrophic lateral sclerosis. Biochem Biophys Res Commun 1994; 204: 572–577.
  • Bereznai B, Winkler A, Borasio GD, Gasser T. A novel SOD1 mutation in an Austrian family with amyotrophic lateral sclerosis. Neuromusc Disord 1997; 7: 113–116.
  • Kim NH, Kim HJ, Kim M, Lee KW. A novel SOD1 gene mutation in Korean patients with slowly progressive familial ALS. J Neurol Sci 2003; 206: 65–69.
  • Penco S, Schjenone A, Bordo D et al. A SOD1 gene mutation in a patient with slowly progressive familial ALS. Neurology 1999; 53: 404–406.
  • Deng H-X, Tainer JA, Mitsumoto H et al. Two novel SOD1 mutations in patients with familial amyotrophic lateral sclerosis. Hum Mol Genet 1995; 4: 1113–1116.
  • Hung W-Y, Siddique T. Am Soc Genet Conf, Denver, 1998.
  • Kawamata J, Shimohama S, Takano S et al. Novel G16S (GGC- AGC) mutation in the SOD1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis. Hum Muta- tion 1997; 9: 356–358.
  • Chio A. Personal communication, 2002.
  • Jones CT, Swingler RJ, Brock DJH. Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others. Hum Mol Genet 1994; 3: 649–650.
  • Gellera C, Castelotti B, Riggio MC et al. Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations. Neuromusc Disord 2001; 11: 404–410.
  • Aoki M, Ogasawara M, Matsubara Y et al. Mild ALS in Japan associated with a novel SOD mutation. Nat Genet 1993; 5: 323–324.
  • Enayat ZE, Orrell RW, Claus A et al. Two novel mutations in the gene for Cu/Zn superoxide dismutase in UK families with amyotrophic lateral sclerosis. Hum Mol Genet 1995; 4: 1239–1240.
  • Orrell RW, Marklund SL, de Belleroche JS. Familial ALS is associated with mutations in all exons of SOD1: a novel mutation in exon 3 (Gly72Ser). J Neurol Sci 1997; 153: 46–49.
  • Segovia-Silvestre T, Andreu LA, Vives-Bauza C et al. A novel exon 3 mutation (D76V) in the SOD1 gene associated with slowly progressive ALS. Amyotrophic Lateral Sclerosis and other Motor Neuron Diseases 2003, (in press).
  • Alexander MD, Traynor, Miller N et al. ‘‘True’’ sporadic ALS associated with a novel SOD1 mutation. Ann Neurol 2002; 52: 680–683.
  • Aoki M, Abe K, Houi K et al. Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation. Ann Neurol 1995; 37: 676–679.
  • Maeda T, Kurahashi K, Matsunaga M et al. On intra-familial clinical diversities of a familial amyotrophic lateral sclerosis with a point mutation of Cu/Zn superoxide dismutase (Asn86-Ser). No To Shinkei 1997; 49: 847–851.
  • Jacobsson J, Jonsson A, Andersen PM et al. Superoxide dismutase in CSF from amyotrophic lateral sclerosis patients with and without Cu/Zn superoxide dismutase mutations. Brain 2001; 124: 1461–1466.
  • Andersen PM, Nilsson P, Ala-Hurula V et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in Cu/Zn superoxide dismutase. Nat Genet 1995; 10: 61–66.
  • Morita M, Abe K, Takahashi M et al. A novel mutation Asp90Val in the SOD1 gene associated with Japanese familial ALS. Eur J Neurol 1998; 5: 389–392.
  • Elshafey A, Lanyon WG, Connor JM. Identification of a new missense mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD1) gene in a family with amyotrophic lateral sclerosis. Hum Mol Genet 1994; 2: 363–364.
  • Kawata A, Kato S, Hayashi H, Hirai S. Prominent sensory and autonomic disturbances in familial amyotrophic lateral sclerosis with a Gly93Ser mutation in the SOD1 gene. J Neurol Sci 1997; 153: 82–85.
  • Hosler BA, Nicholson GA, Sapp PC et al. Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis. Neuromusc Disord 1996; 6: 361–366.
  • Traynor BJ, Corr B, Frost E et al. Cu/Zn superoxide dismutase 1 and ALS: a population analysis. J Neurology 1999; 246 Suppl. 1: S60.
  • Hand CK, Mayeux-Portas V, Khoris J et al. Compound hetero- zygous D90A and D96N SOD1 mutations in a recessive amyotrophic lateral sclerosis family. Ann Neurol 2001; 49: 267–271.
  • Siddique T, Deng H-X. Genetics of ALS. Hum Mol Genet 1996; 5: 1465–1470.
  • Yulug IG, Katsanis N, de Belleroche J et al. An improved protocol for the analysis of SOD1 mutations, and a new mutation in exon 4. Hum Mol Genet 1995; 4: 1101–1104.
  • Jones CT, Shaw PJ, Chari G, Brock DJH. Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient. Mol Cellul Probes 1994; 8: 329–330.
  • Abe K, Aoki M, Ikeda M et al. Clinical characteristics of familial amyotrophic lateral sclerosis with Cu/Zn superoxide dismutase gene mutations. J Neurol Sci 1996; 136: 108–116.
  • Andersen PM, personal communication, 2000.
  • Orrell RW, Jabgood JJ, Shepherd DI et al. A novel mutation of SOD1 (Gly108Val) in familial amyotrophic lateral sclerosis. Eur J Neurol 1997; 4: 48–51.
  • Kostrzewa M, Burck-Lehmann U, Mu¨ ller U. Autosomal dominant amyotrophic lateral sclerosis: a novel mutation in the Cu/Zn super- oxide dismutase-1 gene. Hum Mol Genet 1994; 3: 2261–2262.
  • Shimizu T, Kawata A, Kato S et al. Autonomic failure in ALS with novel SOD1 gene mutation. Neurology 2000; 54: 1534–1537.
  • Pramatarova A, Goto J, Nanba E et al. A two basepair deletion in the SOD1 gene causes familial amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 2061–2062.
  • Murakami T, Warita H, Hayashi T et al. A novel SOD1 gene mutation in familial ALS with low penetrance in females. J Neurol Sci 2001; 189: 45–47.
  • Zu JS, Deng H-X, 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.
  • Hansen C, Gredal O, Werdelin L et al. Novel 4-bp insertion in the Cu/Zn superoxide dismutase (SOD1) gene associated with familial amyotrophic lateral sclerosis. Hum Mutation 1998 Suppl. 1: S327–8.
  • 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 Cu/Zn superoxide dismutase in UK families with amyotrophic lateral sclerosis. Neurology 1997; 48: 746–751.
  • Watanabe M, Aoki M, Abe K et al. A novel missense point mutation (S134N) of the Cu/Zn superoxide dismutase gene in a patient with familial motor neuron disease. Hum Mutation 1997; 9: 69–71.
  • Jafari-Schluep HF, Khoris J, Mayeux-Portas V et al. Les anomalies du ge`ne superoxyde dismutase 1 dans la scle´rose late´rale amyotrophique familiale: corre´lations phe´notype-ge´notype et implications pratiques. Rev Neurol 2003. (in press).
  • Pramatarova A, Figlewicz DA, Krizus A et al. Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. Am J Hum Genet 1995; 56: 592–596.
  • Naini A, Musumeci O, Hayes L et al. Identification of a novel mutation in Cu/Zn SOD gene associated with familial ALS. J Neurol Sci 2002; 198: 17–19.
  • 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. Neuro- muscular Disord 1995; 5: 353–357.
  • DP Keckarevic. Personal communication, 2001.
  • Ikeda M, Abe K, Aoki M et al. A novel point mutation in the Cu/Zn superoxide dismutase gene in a patient with familial amyotrophic lateral sclerosis. Hum Mol Genet 1995; 4: 491–492.
  • Kostrzewa M, Damian MS, Mu¨ ller U. Superoxide dismutase 1: identification of a novel mutation in a case of familial amyotrophic lateral sclerosis. Hum Genet 1996; 98: 48–50.
  • Calder VL, Domigan NM, George PM et al. Superoxide dismutase (Glu100Gly) in a family with inherited motor neuron disease: detection of mutant superoxide dismutase activity and the presence of heterodimers. Neurosci Lett 1995; 189: 143–146.
  • Andersen PM, Forsgren L, Binzer M et al. Autosomal recessive adult-onset ALS associated with homozygosity for Asp90Ala Cu/ Zn superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain 1996; 119: 1153–1172.
  • Vulpian A. Maladies du syste`me nerveux (moelle e´pinie`re). Vol 2, chapter 23. Paris: Octave Doin, 1886: 436.
  • Andersen PM, Spitsyn VA, Makarov SV et al. The geographic and ethnic distribution of the D90A Cu/Zn SOD mutation in the Russian Federation. Amyotroph Lateral Scler Other Motor Neuron Disord 2001; 2: 63–69.
  • Parton MJ, Broom W, Andersen PM et al. D90A-SOD1 mediated amyotrophic lateral sclerosis: a single founder for all cases with evidence for a Cis-acting disease modifer in the recessive haplotype. Human Mutation 2002; 20: 473.
  • Pardo CA, Xu Z, Borchelt DR et al. Superoxide dismutase is an abundant component in cell bodies, dendrites, and axons of motor neurons and in a subset of other neurons. Proc Natl Acad Sci USA 1995; 92: 954–958.
  • Cleveland DW, Rothstein JD. From Charcot to Lougehrig: deciphering selective motor neuron death in ALS. Nat Rev Neurosci 2001; 2: 806–819.
  • Yim HS, Kang JH, Chock PB et al. A familial amyotrophic lateral sclerosis-associated A4V Cu/Zn superoxide dismutase mutant has a lower Km for hydrogen peroxide. Correlation between clinical severity and the Km value. J Biol Chem 1997; 272: 8861–8863.
  • Beckman JS, Carson M, Smith CD, Koppenol WH. ALS, SOD and peroxynitrite. Nature 1993; 364: 584.
  • Ferri A, Gabbianelli R, Casciati A et al. Oxidative inactivation of calcineurin by Cu/Zn superoxide dismutase G93A, a mutant typical of familial amyotrophic lateral sclerosis. J Neurochem 2001; 79: 531–538.
  • Wong PC, Pardo CA, Borchelt DR et al. An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 1995; 14: 1105–1116.
  • Kunst CB, Mezey E, Brownstein MJ, Patterson D. Mutations in SOD1 associated with amyotrophic lateral sclerosis cause novel protein interactions. Nat Genet 1997; 15: 91–94.
  • Okado-Matsumoto A, Fridovich I. Amyotrophic lateral sclerosis: a proposed mechanism. Proc Natl Acad Sci USA 2002; 99: 9010–9014.
  • Durham HD, Roy J, Dong L, Figlewicz DA. Aggregation of mutant Cu/Zn superoxide dismutase proteins in a culture model of ALS. J Neuropathol Exp Neurol 1997; 56: 523–530.
  • Lindberg MJ, Tibell L, Oliveberg M. Common denominator of Cu/Zn superoxide dismutase mutants associated with amyo- trophic lateral sclerosis: decreased stability of the apostate. Proc Natl Acad Sci USA 2002; 99: 16607–16612.
  • Tiwari A, Hayward LJ. Familial ALS mutants of Cu/Zn superoxide dismutase are susceptible to disulfide reduction. J Biol Chem 2003; 278: 5984–5992.
  • Subramaniam JR, Lyons WE, Liu J et al. Mutant SOD1 causes motor neuron disease independent of copper chaperone- mediated copper loading. Nat Neurosci 2002; 5: 301–307.
  • Malaspina A, Kaushik N, Belleroche J de. Differential expression of 14 genes in ALS spinal cord detected using gridded cDNA arrays. J Neurochemistry 2001; 77: 132–145.
  • Ogawa Y, Kosaka H, Nakanishi T et al. Stability of mutant superoxide dismutase1 associated with familial ALS determines the manner of copper release and induction of thioredoxin in erythrocytes. Biochem Biophys Res Commun 1997; 241: 251–257.
  • Hadano S, Hand CK, Osuga H et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nat Genet 2001; 29: 166–173.
  • Yang Y, Hentati A, Deng HX et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nat Genet 2001; 29: 160–165.
  • Gudesblatt M, Ludman MD, Cohen JA et al. Hexosaminidase A activity and amyotrophic lateral sclerosis. Muscle Nerve 1988; 11: 227–230.
  • Hayward C, Colville S, Swingler RJ, Brock DJ. Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis. Neurology 1999; 52: 1899–1901.
  • van Landeghem GF, Tabatabie P, Beckman G et al. Manganese- containing superoxide dismutase signal sequence polymorphism associated with sporadic motor neuron disease. Eur J Neurol 1999; 6: 639–644.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.