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Amyotroph Lateral Scler ; 12(2): 79-86, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21241159

RESUMO

Transgenic (Tg) mouse models of FALS containing mutant human SOD1 genes (G37R, G85R, D90A, or G93A missense mutations or truncated SOD1) exhibit progressive neurodegeneration of the motor system that bears a striking resemblance to ALS, both clinically and pathologically. The most utilized and best characterized Tg mice are the G93A mutant hSOD1 (Tg(hSOD1-G93A)1GUR mice), abbreviated G93A. In this review we highlight what is known about background-dependent differences in disease phenotype in transgenic mice that carry mutated human or mouse SOD1. Expression of G93A-hSOD1Tg in congenic lines with ALR, NOD.Rag1KO, SJL or C3H backgrounds show a more severe phenotype than in the mixed (B6xSJL) hSOD1Tg mice, whereas a milder phenotype is observed in B6, B10, BALB/c and DBA inbred lines. We hypothesize that the background differences are due to disease-modifying genes. Identification of modifier genes can highlight intracellular pathways already suspected to be involved in motor neuron degeneration; it may also point to new pathways and processes that have not yet been considered. Most importantly, identified modifier genes provide new targets for the development of therapies.


Assuntos
Esclerose Lateral Amiotrófica/genética , Genótipo , Camundongos Transgênicos , Fenótipo , Superóxido Dismutase/genética , Esclerose Lateral Amiotrófica/patologia , Esclerose Lateral Amiotrófica/fisiopatologia , Animais , Modelos Animais de Doenças , Desenho de Fármacos , Feminino , Humanos , Masculino , Camundongos , Degeneração Neural/genética , Degeneração Neural/patologia , Isoformas de Proteínas/genética , Superóxido Dismutase-1 , Taxa de Sobrevida
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