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Loss of function of Slc20a2 associated with familial idiopathic basal ganglia calcification in humans causes brain calcifications in mice

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  • Nina Jensen, Denmark
  • Henrik Daa Schrøder, Odense Universitetshospital, Denmark
  • Eva Kildall Hejbøl, Odense Universitetshospital, Denmark
  • Ernst-Martin Füchtbauer
  • João Ricardo Mendes de Oliveira, Federal University of Pernambuco, Brazil
  • Lene Pedersen
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.
Original languageEnglish
JournalJournal of Molecular Neuroscience
Volume51
Issue3
Pages (from-to)994-999
Number of pages6
ISSN0895-8696
DOIs
Publication statusPublished - Aug 2013

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