AI Article Synopsis

  • Familial idiopathic basal ganglia calcification (IBGC) is a genetic disorder that leads to diverse neuropsychiatric symptoms, such as parkinsonism and dementia.
  • Researchers discovered mutations in the SLC20A2 gene, which is responsible for a phosphate transporter, in families affected by IBGC across different ancestries.
  • The study found that the mutations significantly hindered phosphate transport activity, suggesting that disruptions in phosphate balance may play a key role in the development of IBGC.

Article 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.

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Source
http://dx.doi.org/10.1038/ng.1077DOI Listing

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