Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis
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- 12 February 2012
- journal article
- research article
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 44 (3), 254-256
- https://doi.org/10.1038/ng.1077
Abstract
Familial idiopathic basal ganglia calcification (IBGC) is a genetic condition with a wide spectrum of neuropsychiatric symptoms, including parkinsonism and dementia. Here, we identified mutations in SLC20A2, encoding the type III sodium-dependent phosphate transporter 2 (PiT2), in IBGC-affected families of varied ancestry, and we observed significantly impaired phosphate transport activity for all assayed PiT2 mutants in Xenopus laevis oocytes. Our results implicate altered phosphate homeostasis in the etiology of IBGC.Keywords
This publication has 15 references indexed in Scilit:
- Phosphate and Cardiovascular DiseaseAdvances in Chronic Kidney Disease, 2011
- NT5EMutations and Arterial CalcificationsNew England Journal of Medicine, 2011
- Regional characterization of energy metabolism in the brain of normal and MPTP-intoxicated mice using new markers of glucose and phosphate transportJournal of Biomedical Science, 2010
- Genetic Disorders of Renal Phosphate TransportNew England Journal of Medicine, 2010
- Identification of a novel genetic locus on chromosome 8p21.1–q11.23 for idiopathic basal ganglia calcificationAmerican Journal Of Medical Genetics Part B-Neuropsychiatric Genetics, 2010
- The Na+-Picotransporter PiT-2 (SLC20A2) is expressed in the apical membrane of rat renal proximal tubules and regulated by dietary PiAmerican Journal of Physiology-Renal Physiology, 2009
- Deciphering PiT transport kinetics and substrate specificity using electrophysiology and flux measurementsAmerican Journal of Physiology-Cell Physiology, 2007
- Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease)Neurology, 2004
- Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcificationNature Genetics, 2003
- Identification and characterization of a widely expressed phosphate transporter/retrovirus receptor familyKidney International, 1996