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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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Basal Ganglia Diseases / genetics*
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Basal Ganglia Diseases / metabolism
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Basal Ganglia Diseases / pathology
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Brain / pathology*
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Calcinosis / genetics*
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Calcinosis / metabolism
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Calcinosis / pathology
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Mice
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Mice, Inbred C57BL
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Mice, Knockout
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Neurodegenerative Diseases / genetics*
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Neurodegenerative Diseases / metabolism
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Neurodegenerative Diseases / pathology
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Sodium-Phosphate Cotransporter Proteins, Type III / genetics*
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Sodium-Phosphate Cotransporter Proteins, Type III / metabolism
Substances
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Slc20a2 protein, mouse
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Sodium-Phosphate Cotransporter Proteins, Type III