Loss of Function of Slc20a2 Associated with Familial Idiopathic Basal Ganglia Calcification in Humans Causes Brain Calcifications in Mice

• Published in: Journal of molecular neuroscience Vol. 51; no. 3; pp. 994 - 999
• Main Authors: Jensen, Nina, Schrøder, Henrik Daa, Hejbøl, Eva Kildall, Füchtbauer, Ernst-Martin, de Oliveira, João Ricardo Mendes, Pedersen, Lene
• Format: Journal Article
• Language: English
• Published: Boston Springer US 01.11.2013; Springer Nature B.V
• Subjects: Animals; Basal ganglia; Basal Ganglia Diseases - genetics; Basal Ganglia Diseases - metabolism; Basal Ganglia Diseases - pathology; Biomedical and Life Sciences; Biomedicine; Brain; Brain - pathology; Calcification; Calcinosis - genetics; Calcinosis - metabolism; Calcinosis - pathology; Cell Biology; Fibroblasts; Gene expression; Histology; Mice; Mice, Inbred C57BL; Mice, Knockout; Mutation; Neurochemistry; Neurodegenerative Diseases - genetics; Neurodegenerative Diseases - metabolism; Neurodegenerative Diseases - pathology; Neurology; Neurosciences; Proteomics; Sodium-Phosphate Cotransporter Proteins, Type III - genetics; Sodium-Phosphate Cotransporter Proteins, Type III - metabolism; Brazil; Denmark; Aarhus Denmark; Brain calcification; PiT2; SLC20A2; Phosphate transporter
• ISSN: 0895-8696; 1559-1166
• DOI: 10.1007/s12031-013-0085-6

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.