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Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers.

Abstract
The spectrum of known disorders of iron metabolism has expanded dramatically over the past few years. Identification of HFE, the gene most commonly mutated in patients with hereditary hemochromatosis, has allowed molecular diagnosis and paved the way for identification of other genes, such as TFR2, that are important in non-HFE-associated iron overload. There are clearly several other, unidentified, iron overload disease genes yet to be found. In parallel, our understanding of iron transport has expanded through identification of Fpn1/Ireg1/MTP1, Sfxn1 and DCYTB: Ongoing studies of Friedreich's ataxia, sideroblastic anemia, aceruloplasminemia and neurodegeneration with brain-iron accumulation are clarifying the role for iron in the nervous system. Finally, as the number of known iron metabolic genes increases and their respective functions are ascertained, new opportunities have arisen to identify genetic modifiers of iron homeostasis.
AuthorsC N Roy, N C Andrews
JournalHuman molecular genetics (Hum Mol Genet) Vol. 10 Issue 20 Pg. 2181-6 (Oct 01 2001) ISSN: 0964-6906 [Print] England
PMID11673399 (Publication Type: Journal Article, Research Support, U.S. Gov't, P.H.S., Review)
Chemical References
  • Iron
Topics
  • Humans
  • Intestinal Absorption
  • Iron (metabolism)
  • Iron Deficiencies
  • Iron Metabolism Disorders (genetics, metabolism)
  • Mutation

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