Aceruloplasminemia: An inherited neurodegenerative disease with impairment of iron homeostasis

Z. Leah Harris, Leo W J Klomp, Jonathan D. Gitlin*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

198 Scopus citations

Abstract

Aceruloplasminemia is an autosomal recessive disorder characterized by progressive neurodegeneration of the retina and basal ganglia associated with specific inherited mutations in the ceruloplasmin gene. Clinical and pathologic studies in patients with aceruloplasminemia revealed a marked accumulation of iron in affected parenchymal tissues, a finding consistent with early work identifying ceruloplasmin as a ferroxidase and with recent findings showing an essential role for a homologous copper oxidase in iron metabolism in yeast. The presence of neurologic symptoms in aceruloplasminemia is unique among the known inherited and acquired disorders of iron metabolism; recent studies revealed an essential role for astrocyte- specific expression of ceruloplasmin in iron metabolism and neuronal survival in the central nervous system. Recognition of aceruloplasminemia provides new insights into the genetic and environmental determinants of copper metabolism and has important implications for our understanding of the role of copper in human neurodegenerative diseases.

Original languageEnglish (US)
Pages (from-to)972S-977S
JournalAmerican Journal of Clinical Nutrition
Volume67
Issue number5 SUPPL.
DOIs
StatePublished - 1998

Keywords

  • Aceruloplasminemia
  • Ceruloplasmin
  • Copper
  • Human genetics
  • Iron
  • Neurodegeneration

ASJC Scopus subject areas

  • Medicine (miscellaneous)
  • Nutrition and Dietetics

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