title: [Superoxide dismutase-1 (SOD-1) gene mutation-dependent mechanisms of neural degeneration in amyotrophic lateral sclerosis].
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.
authors.affiliation: Katedry i Kliniki Neurologii Akademii Medycznej w Lublinie Kierownik. jeanne@poczta.arena.pl
authors.forename: J
authors.initials: J
authors.lastname: Iłzecka
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D027342:Excitatory Amino Acid Transporter 2 / Q000235:genetics / Q000378:metabolism; D018698:Glutamic Acid / Q000235:genetics / Q000378:metabolism; D006801:Humans; D009046:Motor Neurons / Q000473:pathology; D009410:Nerve Degeneration / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics; D013482:Superoxide Dismutase / Q000235:genetics* / Q000378:metabolism; D000072105:Superoxide Dismutase-1
chemical_list: D027342:Excitatory Amino Acid Transporter 2; D012333:RNA, Messenger; C000606290:SOD1 protein, human; D018698:Glutamic Acid; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1