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Science 20 August 1993:
Vol. 261. no. 5124, pp. 1047 - 1051
DOI: 10.1126/science.8351519
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Articles

Science, Vol 261, Issue 5124, 1047-1051
Copyright © 1993 by American Association for the Advancement of Science

articles

Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase

HX Deng, A Hentati, JA Tainer, Z Iqbal, A Cayabyab, WY Hung, ED Getzoff, P Hu, B Herzfeldt, RP Roos, and al. et

Department of Neurology, Northwestern University Medical School, Chicago, IL 60611.

Single-site mutants in the Cu,Zn superoxide dismutase (SOD) gene (SOD1) occur in patients with the fatal neurodegenerative disorder familial amyotrophic lateral sclerosis (FALS). Complete screening of the SOD1 coding region revealed that the mutation Ala4 to Val in exon 1 was the most frequent one; mutations were identified in exons 2, 4, and 5 but not in the active site region formed by exon 3. The 2.4 A crystal structure of human SOD, along with two other SOD structures, established that all 12 observed FALS mutant sites alter conserved interactions critical to the beta-barrel fold and dimer contact, rather than catalysis. Red cells from heterozygotes had less than 50 percent normal SOD activity, consistent with a structurally defective SOD dimer. Thus, defective SOD is linked to motor neuron death and carries implications for understanding and possible treatment of FALS.


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   Abstract »    Full Text »    PDF »
The role of immunophilins in mutant superoxide dismutase-1linked familial amyotrophic lateral sclerosis.
J.-p. Lee, H. C. Palfrey, V. P. Bindokas, G. D. Ghadge, L. Ma, R. J. Miller, and R. P. Roos (1999)
PNAS 96, 3251-3256
   Abstract »    Full Text »    PDF »
FLP Recombinase-Mediated Induction of Cu/Zn-Superoxide Dismutase Transgene Expression Can Extend the Life Span of Adult Drosophila melanogaster Flies.
J. Sun and J. Tower (1999)
Mol. Cell. Biol. 19, 216-228
   Abstract »    Full Text »    PDF »
The Human Copper-Zinc Superoxide Dismutase Gene (SOD1) Proximal Promoter Is Regulated by Sp1, Egr-1, and WT1 via Non-canonical Binding Sites.
E. Minc, P. de Coppet, P. Masson, L. Thiery, S. Dutertre, M. Amor-Gueret, and C. Jaulin (1999)
J. Biol. Chem. 274, 503-509
   Abstract »    Full Text »    PDF »
Genetic Neurodegenerative Diseases: The Human Illness and Transgenic Models.
D. L. Price, S. S. Sisodia, and D. R. Borchelt (1998)
Science 282, 1079-1083
   Abstract »    Full Text »
Using Knockout and Transgenic Mice to Study Neurophysiology and Behavior.
M. R. PICCIOTTO and K. WICKMAN (1998)
Physiol Rev 78, 1131-1163
   Abstract »    Full Text »    PDF »
Aggregation and Motor Neuron Toxicity of an ALS-Linked SOD1 Mutant Independent from Wild-Type SOD1.
L. I. Bruijn, M. K. Houseweart, S. Kato, K. L. Anderson, S. D. Anderson, E. Ohama, A. G. Reaume, R. W. Scott, and D. W. Cleveland (1998)
Science 281, 1851-1854
   Abstract »    Full Text »
The Copper Chaperone CCS Directly Interacts with Copper/Zinc Superoxide Dismutase.
R. L. B. Casareno, D. Waggoner, and J. D. Gitlin (1998)
J. Biol. Chem. 273, 23625-23628
   Abstract »    Full Text »    PDF »
Absence of neurofilaments reduces the selective vulnerability of motor neurons and slows disease caused by a familial amyotrophic lateral sclerosis-linked superoxide dismutase 1 mutant.
T. L. Williamson, L. I. Bruijn, Q. Zhu, K. L. Anderson, S. D. Anderson, J.-P. Julien, and D. W. Cleveland (1998)
PNAS 95, 9631-9636
   Abstract »    Full Text »    PDF »
Apoptosis of Retrogradely Degenerating Neurons Occurs in Association with the Accumulation of Perikaryal Mitochondria and Oxidative Damage to the Nucleus.
N. A. Al-Abdulla and L. J. Martin (1998)
Am. J. Pathol. 153, 447-456
   Abstract »    Full Text »    PDF »
Rat Testicular Extracellular Superoxide Dismutase: Its Purification, Cellular Distribution, and Regulation.
D. Mruk, C.-H. Cheng, Y.-H. Cheng, M.-y. Mo, J. Grima, B. Silvestrini, W. M. Lee, and C. Y. Cheng (1998)
Biol Reprod 59, 298-308
   Abstract »    Full Text »
Reexamination of the mechanism of hydroxyl radical adducts formed from the reaction between familial amyotrophic lateral sclerosis-associated Cu,Zn superoxide dismutase mutants and H2O2.
R. J. Singh, H. Karoui, M. R. Gunther, J. S. Beckman, R. P. Mason, and B. Kalyanaraman (1998)
PNAS 95, 6675-6680
   Abstract »    Full Text »    PDF »
Chaperone-facilitated copper binding is a property common to several classes of familial amyotrophic lateral sclerosis-linked superoxide dismutase mutants.
L. B. Corson, J. J. Strain, V. C. Culotta, and D. W. Cleveland (1998)
PNAS 95, 6361-6366
   Abstract »    Full Text »    PDF »
Overexpression of human copper,zinc-superoxide dismutase (SOD1) prevents postischemic injury.
P. Wang, H. Chen, H. Qin, S. Sankarapandi, M. W. Becher, P. C. Wong, and J. L. Zweier (1998)
PNAS 95, 4556-4560
   Abstract »    Full Text »    PDF »
Regional and Ultrastructural Immunolocalization of Copper-Zinc Superoxide Dismutase in Rat Central Nervous System.
S. Moreno, R. Nardacci, and M. P. Ceru (1997)
J. Histochem. Cytochem. 45, 1611-1622
   Abstract »    Full Text »    PDF »
Mutant Superoxide Dismutase-1-Linked Familial Amyotrophic Lateral Sclerosis: Molecular Mechanisms of Neuronal Death and Protection.
G. D. Ghadge, J. P. Lee, V. P. Bindokas, J. Jordan, L. Ma, R. J. Miller, and R. P. Roos (1997)
J. Neurosci. 17, 8756-8766
   Abstract »    Full Text »    PDF »
Amyotrophic Lateral Sclerosis: Insights From Genetics.
R. H. Brown Jr (1997)
Arch Neurol 54, 1246-1250
   Abstract »    PDF »
The Copper Chaperone for Superoxide Dismutase.
V. C. Culotta, L. W. J. Klomp, J. Strain, R. L. B. Casareno, B. Krems, and J. D. Gitlin (1997)
J. Biol. Chem. 272, 23469-23472
   Abstract »    Full Text »    PDF »
Superoxide Anion Radical (Obardot 2), Superoxide Dismutases, and Related Matters.
I. Fridovich (1997)
J. Biol. Chem. 272, 18515-18517
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Oxidative stress mediates impairment of muscle function in transgenic mice with elevated level of wild-type Cu/Zn superoxide dismutase.
M. Peled-Kamar, J. Lotem, I. Wirguin, L. Weiner, A. Hermalin, and Y. Groner (1997)
PNAS 94, 3883-3887
   Abstract »    Full Text »    PDF »


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