Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant

Proc Natl Acad Sci U S A. 2009 Sep 22;106(38):16381-6. doi: 10.1073/pnas.0906784106. Epub 2009 Sep 4.

Abstract

We used the muscle creatine kinase (MCK) conditional frataxin knockout mouse to elucidate how frataxin deficiency alters iron metabolism. This is of significance because frataxin deficiency leads to Friedreich's ataxia, a disease marked by neurologic and cardiologic degeneration. Using cardiac tissues, we demonstrate that frataxin deficiency leads to down-regulation of key molecules involved in 3 mitochondrial utilization pathways: iron-sulfur cluster (ISC) synthesis (iron-sulfur cluster scaffold protein1/2 and the cysteine desulferase Nfs1), mitochondrial iron storage (mitochondrial ferritin), and heme synthesis (5-aminolevulinate dehydratase, coproporphyrinogen oxidase, hydroxymethylbilane synthase, uroporphyrinogen III synthase, and ferrochelatase). This marked decrease in mitochondrial iron utilization and resultant reduced release of heme and ISC from the mitochondrion could contribute to the excessive mitochondrial iron observed. This effect is compounded by increased iron availability for mitochondrial uptake through (i) transferrin receptor1 up-regulation, increasing iron uptake from transferrin; (ii) decreased ferroportin1 expression, limiting iron export; (iii) increased expression of the heme catabolism enzyme heme oxygenase1 and down-regulation of ferritin-H and -L, both likely leading to increased "free iron" for mitochondrial uptake; and (iv) increased expression of the mammalian exocyst protein Sec15l1 and the mitochondrial iron importer mitoferrin-2 (Mfrn2), which facilitate cellular iron uptake and mitochondrial iron influx, respectively. Our results enable the construction of a model explaining the cytosolic iron deficiency and mitochondrial iron loading in the absence of frataxin, which is important for understanding the pathogenesis of Friedreich's ataxia.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Antimicrobial Cationic Peptides / genetics
  • Antimicrobial Cationic Peptides / metabolism
  • Blotting, Western
  • Carbon-Sulfur Lyases / genetics
  • Carbon-Sulfur Lyases / metabolism
  • Coproporphyrinogen Oxidase / genetics
  • Coproporphyrinogen Oxidase / metabolism
  • Disease Models, Animal
  • Ferrochelatase / genetics
  • Ferrochelatase / metabolism
  • Frataxin
  • Friedreich Ataxia / genetics*
  • Friedreich Ataxia / metabolism
  • Friedreich Ataxia / pathology
  • Gene Expression Profiling
  • Heme / metabolism
  • Hepcidins
  • Humans
  • Iron / metabolism*
  • Iron-Binding Proteins / genetics*
  • Iron-Binding Proteins / metabolism
  • Kidney / metabolism
  • Liver / metabolism
  • Mice
  • Mice, Knockout
  • Mitochondria / metabolism*
  • Myocardium / cytology
  • Myocardium / metabolism
  • Oligonucleotide Array Sequence Analysis
  • Reverse Transcriptase Polymerase Chain Reaction
  • Spleen / metabolism
  • Uroporphyrinogen III Synthetase / genetics
  • Uroporphyrinogen III Synthetase / metabolism

Substances

  • Antimicrobial Cationic Peptides
  • Hepcidins
  • Iron-Binding Proteins
  • Heme
  • Iron
  • Coproporphyrinogen Oxidase
  • Uroporphyrinogen III Synthetase
  • Carbon-Sulfur Lyases
  • cysteine desulfurase
  • Ferrochelatase