Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice

A Keller, A Westenberger, MJ Sobrido… - Nature …, 2013 - nature.com
A Keller, A Westenberger, MJ Sobrido, M Garcia-Murias, A Domingo, RL Sears, RR Lemos…
Nature genetics, 2013nature.com
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 β (PDGF-Rβ) 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-Rβ. We also show that mice carrying hypomorphic Pdgfb alleles develop brain …
Abstract
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 β (PDGF-Rβ) 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-Rβ. 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.
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