Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice.
Familial idiopathic basal ganglia calcification (FIBGC) is a neurodegenerative disorder with neuropsychiatric and motor symptoms. Deleterious mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), were recently linked to FIBGC in almost 50% of the families reported worldwide. Here, we show that knockout of Slc20a2 in mice causes calcifications in the thalamus, basal ganglia, and cortex, demonstrating that reduced PiT2 expression alone can cause brain calcifications.
Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Nina
N
Jensen
Henrik Daa
HD
Schrøder
Eva Kildall
EK
Hejbøl
Ernst-Martin
EM
Füchtbauer
João Ricardo Mendes
JR
de Oliveira
Lene
L
Pedersen
D000818:Animals; D001480:Basal Ganglia Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D001921:Brain / Q000473:pathology*; D002114:Calcinosis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D019636:Neurodegenerative Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D050611:Sodium-Phosphate Cotransporter Proteins, Type III / Q000235:genetics* / Q000378:metabolism
C493565:Slc20a2 protein, mouse; D050611:Sodium-Phosphate Cotransporter Proteins, Type III