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Identification of Six Novel SOD1 Gene Mutations in Familial Amyotrophic Lateral Sclerosis

Published online by Cambridge University Press:  18 September 2015

Y. Boukaftane ,
J. Khoris ,
B. Moulard ,
F. Salachas ,
V. Meininger ,
A. Malafosse ,
W. Camu  and
G.A. Rouleau
Y. Boukaftane
Affiliation:
Centre for Research in Neuroscience, McGill University, and the Montreal General Hospital Research Institute, Montreal, Canada
J. Khoris
Affiliation:
Centre for Research in Neuroscience, McGill University, and the Montreal General Hospital Research Institute, Montreal, Canada
B. Moulard
Affiliation:
Laboratoire de Médecine Expérimentale, Institut de Biologie, Montpelier, France
F. Salachas
Affiliation:
Service de Neurologie, division Mazarin, Hôpital de la Salpétrière, Paris, France
V. Meininger
Affiliation:
Service de Neurologie, division Mazarin, Hôpital de la Salpétrière, Paris, France
A. Malafosse
Affiliation:
Division de Neuropsychiatrie, Hôpital Belle-Idée, Genève, Suisse,
W. Camu
Affiliation:
Département de physiopathologie Neuromusculaire, Institut de Biologie, Montpelier, France
G.A. Rouleau*
Affiliation:
Centre for Research in Neuroscience, McGill University, and the Montreal General Hospital Research Institute, Montreal, Canada
*
Rm L7 224, Department of Neurology, Montreal General Hospital, 1650 Cedar Avenue, Montreal, Quebec, Canada, H3G 1A4
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Abstract:

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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the premature death of motor neurons. In approximately 10% of the cases the disease is inherited as autosomal dominant trait (FALS). It has been found that mutations in the Cu/Zn superoxide dismutase gene (SODl) are responsible for approximately 15% of FALS kindreds. We screened affected individuals from 70 unrelated FALS kindreds and identified 10 mutations, 6 of which are novel. Surprisingly, we have found a mutation in exon 3, which includes most of the active site loop and Zn2+ binding sites, a region where no previous SOD1 mutations have been found. Our data increase the number of different SODl mutations causing FALS to 55, a significant fraction of the 154 amino acids of this relatively small protein.

Type
Expedited Publication
Information
Canadian Journal of Neurological Sciences , Volume 25 , Issue 3 , August 1998 , pp. 192 - 196
Copyright
Copyright © Canadian Neurological Sciences Federation 1998

References

REFERENCES

1.Tandan, R, Bradley, WG. Amyotrophic lateral sclerosis: Part 1. Clinical features, pathology, and ethical issues in management. Ann Neurol 1985; 18: 271–280.CrossRefGoogle ScholarPubMed
2.Tandan, R, Bradley, WG. Amyotrophic lateral sclerosis: Part 2. Etiopathogenesis. Ann Neurol 1985; 18: 419–431.CrossRefGoogle ScholarPubMed
3.Mulder, DS, Kurland, LT, Offord, KP, Beard, CM. Familial adult motor neuron disease: amyotrophic lateral sclerosis. Neurology 1986; 36: 511–517.Google ScholarPubMed
4.Hentati, A, et al. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat Genet 1994; 7: 425–428.CrossRefGoogle ScholarPubMed
5.Andersen, PM, et al. Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase. Nat Genet 1995; 10: 61–66.CrossRefGoogle ScholarPubMed
6.Rosen, DR, et al. A frequent ala 4 to val superoxide dismutase-l mutation is associated with a rapidly progressive familial amyotrophic lateral sclerosis. Hum Mol Genet 1994; 3: 981–987.CrossRefGoogle Scholar
7.Siddique, T, 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: 1381–1384.CrossRefGoogle ScholarPubMed
8.Siddique, T, Deng, HX. Genetics of amyotrophic lateral sclerosis. Hum Mol Genet 1996: 1465–1470.CrossRefGoogle ScholarPubMed
9.Andersen, PM, et al. Autosomal recessive adult-onset amyotrophic lateral sclerosis associated with homozygosity for Asp90ala CuZn-superoxide dismutase mutation. A clinical and genealogical study of 36 patients. Brain 1996; 119: 1153–1172.CrossRefGoogle ScholarPubMed
10.Gurney, ME, et al. Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation. Science 1994; 264: 1772–1775.CrossRefGoogle ScholarPubMed
11.Cleveland, DW, et al. Mechanisms of selective motor neuron death in transgenic mouse models of motor neuron disease. Neurology 1996; 47: S54-S61; discussion S61-S62.CrossRefGoogle ScholarPubMed
12.Kostic, V, et al. Midbrain dopaminergic neuronal degeneration in a transgenic mouse model of familial amyotrophic lateral sclerosis. Ann Neurol 1997; 41: 497–504.Google Scholar
13.BrooksBR, BR,. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases and the El Escorial “Clinical limits of amyotrophic lateral sclerosis” workshop contributors. J Neurol Sci 1994; 124: S96-S107.CrossRefGoogle Scholar
14.Yulug, IG, Katsanis, N, De Belleroche, J, Collinge, J, Fisher, EM. An improved protocol for the analysis of SODI gene mutations, and a new mutation in exon 4. Hum Mol Genet 1995; 4: 1101–1104.CrossRefGoogle Scholar
15.Orita, M, Iwahana, H, Kanazawa, H, Hayashi, K, Sekiya, T. Detection of polymorphisms of human DNA by gel electrophoresis of singlestrand conformation polymorphisms. Proc Natl Acad Sci USA 1989; 86: 2766–2770.CrossRefGoogle ScholarPubMed
16.Michaud, J, et al. Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene. Genomics 1992; 13: 389–394.CrossRefGoogle ScholarPubMed
17.Tahara, T, Kraus, JP, Rosenberg, LE. Direct DNA sequencing of PCR amplified genomic DNA by the Maxam-Gilbert method. Biotechniques. 1990; 8: 366–368.Google ScholarPubMed
18.Kusukawa, N, Uemori, T, Asada, K, Kato, I. Rapid and reliable protocol for direct sequencing of material amplified by the polymerase chain reaction. Biotechniques 1990; 9: 66–72.Google ScholarPubMed
19.Brody, LC, et al. Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. J Biol Chem 1992; 267: 3302–3307.CrossRefGoogle ScholarPubMed
20.Rosen, DR, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 1993; 362: 59–62.CrossRefGoogle ScholarPubMed
21.Deng, HX, et al. Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase. Science 1993; 261: 1047–1051.CrossRefGoogle ScholarPubMed
22.Pramatarova, 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.Google ScholarPubMed
23.Jones, CT, Swingler, RJ, Brock, DJ. Identification of a novel SODI mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ilel l3Thr in three others. Hum Mol Genet 1994; 3: 649–650.CrossRefGoogle Scholar
24.Ebadi, M, Murrin, LC, Pfeiffer, RF. Hippocampal zinc thionein and pyridoxal phosphate modulate synaptic functions. Ann NY Acad Sci. 1990; 585: 189–201.CrossRefGoogle ScholarPubMed
25.Choi, DW, Yokayama, M, Koh, J. Zinc neurotoxicity in cortical cell culture. Neuroscience 1988; 24: 67–79.CrossRefGoogle ScholarPubMed
26.Duncan, MW, Marini, AM, Watters, R, Kopin, IJ, Markey, SP. Zinc, a neurotoxin to cultured neurons, contaminates cycad flour prepared by traditional guamanian methods. J Neurosci 1992; 12: 1523–1537.CrossRefGoogle ScholarPubMed