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Disease models

Mouse models of idiopathic basal ganglia calcification (IBGC)

Mouse models of IBGC could be useful for studying associations between brain lesions and cognitive, motor and psychiatric symptoms. In human samples, exome sequencing revealed that platelet derived growth factor B (PDGFB; PDGF2) mutations co-segregated with IBGC. In three different mouse models with reduced expression of Pdgfb, which have known defects in the blood brain barrier (BBB), calcified lesions similar to those in humans were detected and brain calcification was shown to progress with age. Next steps include performing behavioral tests on these mice and evaluating the BBB in humans who have PDGFB mutations.

SciBX 6(33); doi:10.1038/scibx.2013.908
Published online Aug. 29, 2013

Unpatented; unlicensed

Keller, A. et al. Nat. Genet.; published online Aug. 4, 2013;
Contact: Christine Klein, University of Luebeck, Luebeck, Germany
Contact: Christer Betsholtz, Uppsala University, Uppsala, Sweden
Contact: Maria J. Sobrido, Clinical University Hospital, Santiago de Compostela, Spain
Contact: Annika Keller, University Hospital Zurich, Zurich, Switzerland