SOD2-deficiency sideroblastic anemia and red blood cell oxidative stress

Antioxid Redox Signal. 2006 Jul-Aug;8(7-8):1217-25. doi: 10.1089/ars.2006.8.1217.

Abstract

Iron overload is a feature of an array of human disorders such as sideroblastic anemias, a heterogeneous group of erythropoietic disorders without identified cause in most cases. However, sideroblastic anemias appear to result from a disturbance at the interface between mitochondrial function and iron metabolism. A defining feature is excessive iron deposition within mitochondria of developing red cells, the consequences of which are an increase in cellular free radicals production, increased damage to proteins, and reduced cell survival. Because of its mitochondrial location, superoxide dismutase (SOD2) is the principal defense against the toxicity of superoxide anions generated by the oxidative phosphorylation. We have used hematopoietic stem cell transplantation to study blood cells lacking SOD2. We became interested in the role SOD2 plays in the metabolism of superoxide anions during erythroid development, as anemia is the major phenotype in transplanted animals. Our exploration of this model suggests that oxidative stress-and in particular, mitochondrial- derived oxidants-plays an important role in the pathogenesis of the human disorder, sideroblastic anemia. Here we review the relation between mitochondrial dysfunction and sideroblastic anemia, describe several methods for assessing oxidative damage to mature or developing red cells, present data on, and discuss the potential of antioxidant therapy for this disorder.

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Anemia, Sideroblastic / enzymology
  • Anemia, Sideroblastic / etiology
  • Anemia, Sideroblastic / genetics
  • Anemia, Sideroblastic / metabolism*
  • Anemia, Sideroblastic / pathology*
  • Animals
  • Antioxidants / metabolism*
  • Antioxidants / pharmacology
  • Erythrocytes / drug effects
  • Erythrocytes / metabolism
  • Erythrocytes / pathology
  • Humans
  • Manganese / administration & dosage
  • Manganese / therapeutic use
  • Manganese / toxicity
  • Mice
  • Mice, Knockout
  • Mitochondria / metabolism
  • Mitochondria / pathology
  • Oxidative Stress*
  • Superoxide Dismutase / deficiency*
  • Superoxide Dismutase / genetics
  • Superoxide Dismutase / metabolism
  • Superoxides / metabolism

Substances

  • Antioxidants
  • Superoxides
  • Manganese
  • Superoxide Dismutase