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Human Molecular Genetics, 2002, Vol. 11, No. 26 3309-3317
© 2002 Oxford University Press

Molybdenum cofactor-deficient mice resemble the phenotype of human patients

Heon-Jin Lee1, Ibrahim M. Adham1, Günter Schwarz2, Matthias Kneussel3, Jörn O. Sass4, Wolfgang Engel1 and Jochen Reiss1,*

1Institut für Humangenetik der Universität Göttingen, Göttingen, Germany, 2Institut für Pflanzenbiologie der Technischen Universität Braunschweig, Braunschweig, Germany, 3Max-Planck-Institut für Hirnforschung, Frankfurt, Germany and 4Zentrum für Kinderheilkunde und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany

Received August 22, 2002; Accepted October 17, 2002

Human molybdenum cofactor deficiency is a rare and devastating autosomal-recessive disease for which no therapy is known. The absence of active sulfite oxidase—a molybdenum cofactor-dependent enzyme—results in neonatal seizures and early childhood death. Most patients harbor mutations in the MOCS1 gene, whose murine homolog was disrupted by homologous recombination with a targeting vector. As in humans, heterozygous mice display no symptoms, but homozygous animals die between days 1 and 11 after birth. Biochemical analyis of these animals shows that molydopterin and active cofactor are undetectable. They do not possess any sulfite oxidase or xanthine dehydrogenase activity. No organ abnormalities were observed and the synaptic localization of inhibitory receptors, which was found to be disturbed in molybdenum cofactor deficient-mice with a Gephyrin mutation, appears normal. MOCS1-/- mice could be a suitable animal model for biochemical and/or genetic therapy approaches.

* To whom correspondence should be addressed at: Institut für Humangenetik der Universität Göttingen, Heinrich-Düker-Weg 12, D-37073 Göttingen, Germany. Tel: +49 5513912926; Fax: +49 551399303; Email: jreiss{at}gwdg.de


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