Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

By H. Puccio, D. Simon, M. Cossée, Paola Criqui-Filipe, F. Tiziano, J. Melki, C. Hindelang, R. Matyáš, P. Rustin, M. Koenig. Nature Genetics, 2001

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AIF deficiency compromises oxidative phosphorylation (2004, background): “…engineered mouse models with primary defects in the mitochondrial antioxidant defence, that is, SOD2 or frataxin knockout mice (Melov et al, 1999; Puccio et al, 2001), present a characteristic loss of activity of the oxygen-sensitive iron–sulfur cluster-containing proteins, especially complex…”
Trends in oxidative aging theories. (2007, background): “In almost exact opposition, recessive mutations in frataxin cause the devastating human neurodegenerative disease, Friedreich's ataxia, [99] and frataxin ablation in mice causes a decreased life span [100].”
Chemistry and biology of eukaryotic iron metabolism. (2001, background): “The gene associated with Friedreich’s ataxia, an autosomal recessive neurological disease characterized by progressive movement impairment and cardiomyopathy in human subjects and a mouse model [133], encodes a hydrophilic protein, frataxin, of 210 amino acids with a mitochondrial N-terminal targeti”
The Evolution of Iron Chelators for the Treatment of Iron Overload Disease and Cancer (2005, background): “This form of iron overload disease is due to the decreased expression of frataxin, a small, mitochondrial protein believed to play a role in mitochondrial iron homeostasis (Puccio et al., 2001; for reviews, see Pandolfo, 2002; Alper and Narayanan, 2003).”