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Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Cancer and Vascular Biology.
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2013 (English)In: Nature Genetics, ISSN 1061-4036, Vol. 45, no 9, 1077-+ p.Article in journal (Refereed) Published
Abstract [en]

Calcifications in the basal ganglia are a common incidental finding and are sometimes inherited as an autosomal dominant trait ( idiopathic basal ganglia calcification (IBGC)). Recently, mutations in the PDGFRB gene coding for the platelet-derived growth factor receptor beta (PDGF-R beta) were linked to IBGC. Here we identify six families of different ancestry with nonsense and missense mutations in the gene encoding PDGF-B, the main ligand for PDGF-R beta. We also show that mice carrying hypomorphic Pdgfb alleles develop brain calcifications that show age-related expansion. The occurrence of these calcium depositions depends on the loss of endothelial PDGF-B and correlates with the degree of pericyte and blood-brain barrier deficiency. Thus, our data present a clear link between Pdgfb mutations and brain calcifications in mice, as well as between PDGFB mutations and IBGC in humans.

Place, publisher, year, edition, pages
2013. Vol. 45, no 9, 1077-+ p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-208063DOI: 10.1038/ng.2723ISI: 000323748200020OAI: oai:DiVA.org:uu-208063DiVA: diva2:651085

These authors jointly directed and contributed equally to this work:

Annika Keller, Ana Westenberger, Maria J Sobrido, Christer Betsholtz, Christine Klein & Joao R M Oliveira

Available from: 2013-09-24 Created: 2013-09-23 Last updated: 2013-09-24Bibliographically approved

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Keller, AnnikaMäe, Maarja AndaloussiRaschperger, ElisabethBetsholtz, Christer
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