Disorders of Manganese Transport

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

1 Scopus citations

Abstract

The transport of manganese across cell membranes is highly regulated in order to prevent toxic accumulation. Recently, an autosomal recessive form of manganese transport disorder has been linked to mutations of SLC30A10, a gene that encodes for a metal transporter (SLC30A10) involved in the efflux of manganese to the extracellular space or subcellular organelles. Patients with this condition commonly manifest hypermanganesemia, extrapyramidal symptoms, liver disease, and polycythemia. Magnetic resonance imaging typically reveals T1 hyperintensities in the basal ganglia. The diagnosis relies on the clinical presentation and on the detection of high levels of manganese in the blood, and is confirmed by mutation analysis of SLC30A10. The treatment aims to reduce manganese levels by chelation therapy and oral iron supplementation. Ongoing research is focused on further elucidating the mechanisms of manganese transport, its distribution at the cellular and subcellular level, and its role in neurotransmission, with the ultimate goal of developing novel therapeutic strategies.

Original languageEnglish
Title of host publicationRosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease
Subtitle of host publicationFifth Edition
PublisherElsevier Inc.
Pages483-493
Number of pages11
ISBN (Electronic)9780124105294
ISBN (Print)9780124105492
DOIs
StatePublished - 13 Nov 2014
Externally publishedYes

Keywords

  • Cirrhosis
  • Manganese
  • Manganism
  • Parkinsonism
  • Polycythemia
  • Transport

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