Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

Nat Genet. 2012 Feb 12;44(3):254-6. doi: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Asian Continental Ancestry Group
  • Basal Ganglia Diseases / genetics*
  • Basal Ganglia Diseases / metabolism
  • Base Sequence
  • Calcinosis / genetics*
  • Calcinosis / metabolism
  • Chromosomes, Human, Pair 8 / genetics*
  • Genetic Linkage
  • Genetic Markers / genetics
  • Homeostasis / genetics*
  • Homeostasis / physiology
  • Humans
  • Lod Score
  • Molecular Sequence Data
  • Mutation, Missense / genetics
  • Oocytes / metabolism
  • Pedigree
  • Phosphates / metabolism*
  • Sequence Analysis, DNA
  • Sodium-Phosphate Cotransporter Proteins, Type III / genetics*
  • Xenopus laevis

Substances

  • Genetic Markers
  • Phosphates
  • SLC20A2 protein, human
  • Sodium-Phosphate Cotransporter Proteins, Type III

Supplementary concepts

  • Basal ganglia calcification, idiopathic 2