Loss of function of Slc20a2 associated with familial idiopathic Basal Ganglia calcification in humans causes brain calcifications in mice.

Abstract

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.

• Authors: Nina Jensen, Henrik Daa Schrøder, Eva Kildall Hejbøl, Ernst-Martin Füchtbauer, João Ricardo Mendes de Oliveira, Lene Pedersen
• Journal: Journal of molecular neuroscience : MN (J Mol Neurosci) Vol. 51 Issue 3 Pg. 994-9 (Nov 2013) ISSN: 1559-1166 [Electronic] United States
• PMID: 23934451 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Slc20a2 protein, mouse
• Sodium-Phosphate Cotransporter Proteins, Type III

Topics

• Animals
• Basal Ganglia Diseases (genetics, metabolism, pathology)
• Brain (pathology)
• Calcinosis (genetics, metabolism, pathology)
• Mice
• Mice, Inbred C57BL
• Mice, Knockout
• Neurodegenerative Diseases (genetics, metabolism, pathology)
• Sodium-Phosphate Cotransporter Proteins, Type III (genetics, metabolism)