title: Slc20a2 is critical for maintaining a physiologic inorganic phosphate level in cerebrospinal fluid.
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.
authors.affiliation: Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.|Department of Molecular Biology and Genetics, Aarhus University, C. F. Møllers Allé 3, Building 1130, 8000, Aarhus, Denmark.
authors.forename: Nina
authors.initials: N
authors.lastname: Jensen
authors.affiliation: Department of Molecular Biology and Genetics, Aarhus University, C. F. Møllers Allé 3, Building 1130, 8000, Aarhus, Denmark.
authors.forename: Jacob Kwasi
authors.initials: JK
authors.lastname: Autzen
authors.affiliation: Department of Clinical Medicine, Aarhus University, Aarhus, Denmark. lp@mbg.au.dk.|Department of Molecular Biology and Genetics, Aarhus University, C. F. Møllers Allé 3, Building 1130, 8000, Aarhus, Denmark. lp@mbg.au.dk.
authors.forename: Lene
authors.initials: L
authors.lastname: Pedersen
mesh_terms: D000818:Animals; D002114:Calcinosis / Q000134:cerebrospinal fluid / Q000235:genetics; D005260:Female; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D009154:Mutation; D019636:Neurodegenerative Diseases / Q000134:cerebrospinal fluid / Q000235:genetics; D010710:Phosphates / Q000134:cerebrospinal fluid*; D050611:Sodium-Phosphate Cotransporter Proteins, Type III / Q000235:genetics* / Q000378:metabolism
chemical_list: D010710:Phosphates; C493565:Slc20a2 protein, mouse; D050611:Sodium-Phosphate Cotransporter Proteins, Type III
keywords: Cerebrospinal fluid; Fahr’s disease; Inorganic phosphate; Primary familial brain calcification; SLC20A1; SLC20A2