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.

OriginalsprogEngelsk
TidsskriftNeurogenetics
Vol/bind17
Nummer2
Sider (fra-til)125-130
Antal sider6
ISSN1364-6745
DOI
StatusUdgivet - 2016

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