Invited Symposium: Iron Transport
Gitlin, JD (Department of Pediatrics, Washington University School of Medicine, St. Louis, USA)
Aceruloplasminemia is an autosomal recessive disorder of iron metabolism. Affected individuals present with diabetes and progressive degeneration of both the retina and basal ganglia in adulthood. Specific inherited mutations within the ceruloplasmin gene result in an absence of circulating serum ceruloplasmin. Consistent with earlier studies identifying the role of ceruloplasmin as an essential ferroxidase, absent ceruloplasmin leads to the associated pathologic findings of marked iron accumulation in both parenchymal tissue and the central nervous system. Recent studies in S. cerevisiae reveal a homologous multicopper oxidase required for iron transport and lend further support for the critical role of a copper containing protein in iron trafficking. It is the neurodegeneration that sets this disorder of iron metabolism apart from other iron overload syndromes. Astrocyte-specific expression of ceruloplasmin plays a role in neuronal survival and function. In aceruloplasminemia, the balance between compartmentalization and storage of iron and the mobilization and transport of iron within the central nervous system is disrupted. Presumably, iron-mediated free-radical injury is responsible for the neurodegeneration observed in aceruloplasminemic patients. Recognition of aceruloplasminemia provides new insight into human iron metabolism and has important implications into our understanding the role of copper and iron in neurodegenerative disease.
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|Harris, ZL; Gitlin, JD; (1998). Aceruloplasminemia. Presented at INABIS '98 - 5th Internet World Congress on Biomedical Sciences at McMaster University, Canada, Dec 7-16th. Invited Symposium. Available at URL http://www.mcmaster.ca/inabis98/templeton/harris0342/index.html|
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