Methods of modulating radical formation by mutant cuznsod...

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A61K 48/00 (2006.01) A61K 31/05 (2006.01) A61K 31/13 (2006.01) A61K 31/175 (2006.01) A61K 31/198 (2006.01) A61K 31/325 (2006.01) A61K 31/355 (2006.01) A61K 31/375 (2006.01) A61K 31/40 (2006.01) A61K 31/4015 (2006.01) A61K 31/444 (2006.01) A61K 31/70 (2006.01)

Patent

CA 2244711

Familial amyotrophic lateral sclerosis (FALS)-associated mutant CuZnSODs, A4V and G93A, have been discovered to catalyze the generation of hydroxyl radical from hydrogen peroxide at higher rates than that of wild type CuZnSOD. The copper chelator diethyldithiocarbamate (DDC) has been found to inhibit both radical generation and SOD activity of mutant CuZnSODs A4V and G93A at DDC concentrations significantly lower than those required to inhibit wild type CuZnSOD enzyme. In a neural cell culture model of FALS, DDC reverses the effect of four FALS-associated mutants, but does not alter the survival of cells expressing only wild type CuZnSOD. Thus, radical formation may be modulated and ALS treated in subjects with a mutant CuZnSOD enzyme by the administration of copper chelating agents. Treatment can also be affected by the administration of radical scavenging agents, or the administration of expression inhibitors specific for the mutant genes.

On a découvert que les mutants A4V et G93A des enzymes CuZnSOD associées à la sclérose latérale amyotrophique héréditaire catalysent la génération du radical hydroxyle à partir du peroxyde d'hydrogène à une vitesse plus élevée que l'enzyme CuZnSOD de type sauvage. On a trouvé par ailleurs que le diéthyldithiocarbamate chélateur du cuivre (DDC) est un inhibiteur aussi bien de la génération de radicaux que de l'activité SOD des mutants A4V et G93A des enzymes CuZnSOD pour des concentrations de DDC notablement inférieures à celles nécessaires à l'inhibition de l'enzyme CuZnSOD de type sauvage. Dans un modèle de culture de cellules neurales de la sclérose latérale amyotrophique héréditaire, le DDC inverse l'effet de quatre mutants associés à la sclérose latérale amyotrophique héréditaire, sans modifier la survie des cellules exprimant l'enzyme CuZnSOD uniquement de type sauvage. Il est ainsi possible de moduler la formation de radicaux et de traiter la sclérose latérale amyotrophique chez certains sujets présentant une enzyme CuZnSOD mutante par administration d'agents chélateurs du cuivre. On peut également réaliser le traitement par administration d'agents captant les radicaux ou par administration d'inhibiteurs d'expression spécifiques des gènes mutants.

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