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. 2016 Apr;17(2):125-30.
doi: 10.1007/s10048-015-0469-6. Epub 2015 Dec 12.

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

Nina Jensen  1   2 , Jacob Kwasi Autzen  2 , Lene Pedersen  3   4
Affiliations

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

Nina Jensen et al. Neurogenetics. 2016 Apr.

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.

Keywords: Cerebrospinal fluid; Fahr’s disease; Inorganic phosphate; Primary familial brain calcification; SLC20A1; SLC20A2.

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Figures

Fig. 1
Fig. 1
[Pi] in serum and CSF from 3-week-old WT and Slc20a2-KO mice. a CSF sampled from 11 WT (8 females, 3 males) and 10 KO (8 females, 2 males). b Serum sampled from 14 WT (10 females, 4 males) and 12 KO (9 females, 3 males). KO compared to WT: CSF [Pi] (p < 0.000001) and serum [Pi] (p < 0.01)
See this image and copyright information in PMC

Comment in

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