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  • Title: [Superoxide dismutase-1 (SOD-1) gene mutation-dependent mechanisms of neural degeneration in amyotrophic lateral sclerosis].
    Author: Iłzecka J.
    Journal: Neurol Neurochir Pol; 2001; 35(3):461-9. PubMed ID: 11732268.
    Abstract:
    Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease involving motor neuron degeneration, occurring in sporadic and familial forms. Mutations in Cu/Zn superoxide dismutase gene (SOD-1) play a key role in the pathogenesis of the familial form in which it is present in about 20%. The mechanisms by which the mutated enzyme produces the disease are not sufficiently know. The following hypothesis are considered: oxidative damage, disorganization of neurofilaments, toxic action of intracellular aggregates, disturbed mechanisms of protein synthesis or degradation, and increased glutamic acid toxicity due to damage of EAAT 2 mRNA, transporter of this acid. It is supposed that motor neuron death is due to various mechanisms caused by SOD-1 enzyme mutations. Pathological changes suggest that biochemical processes leading to neurodegeneration in familial ALS form related or unrelated to SOD-1 mutation, and in sporadic form may be very similar.
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