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Neurol Neurochir Pol. 2001 Mar-Apr;35(3):461-9.

[Superoxide dismutase-1 (SOD-1) gene mutation-dependent mechanisms of neural degeneration in amyotrophic lateral sclerosis].

[Article in Polish]

Author information

  • 1Katedry i Kliniki Neurologii Akademii Medycznej w Lublinie Kierownik. jeanne@poczta.arena.pl

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.

PMID:
11732268
[PubMed - indexed for MEDLINE]
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