Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid

Nina Jensen, Jacob Kwasi Autzen, Lene Pedersen

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Abstract

Mutations in the SLC20A2-gene encoding the inorganic phosphate (Pi) transporter PiT2 can explain approximately 40 % of the familial cases of the rare neurodegenerative disorder primary familial brain calcification (Fahr’s disease). The disease characteristic, cerebrovascular-associated calcifications, is also present in Slc20a2-knockout (KO) mice. Little is known about the specific role(s) of PiT2 in the brain. Recent in vitro studies, however, suggest a role in regulation of the [Pi] in cerebrospinal fluid (CSF). We here show that Slc20a2-KO mice indeed have a high CSF [Pi] in agreement with a role of PiT2 in Pi export from the CSF. The implications in relation to disease mechanism are discussed.

Original languageEnglish
JournalNeurogenetics
Volume17
Issue2
Pages (from-to)125-130
Number of pages6
ISSN1364-6745
DOIs
Publication statusPublished - 2016

Keywords

  • Cerebrospinal fluid
  • Fahr’s disease
  • Inorganic phosphate
  • Primary familial brain calcification
  • SLC20A1
  • SLC20A2

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