Frataxin overexpressing mice.
Friedreich ataxia, the most common autosomal recessive ataxia, is caused by frataxin deficiency. Reduction of frataxin has been associated with iron accumulation and sensitivity to iron induced oxidative stress. To better understand the function of frataxin, transgenic mice (tgFxn) overexpressing human frataxin were generated. Iron metabolism parameters in tgFxn were normal and no signs of ataxia or other obvious abnormalities were observed, indicating that overexpression of frataxin in mouse is innocuous. Several hypotheses for frataxin function were evaluated in tgFxn mice. In particular, we observed that TgFxn mice show an altered response during hematopoietic differentiation, suggesting that frataxin may directly affect heme synthesis.
Department of Medicine, Centre Hospitalier de l'Université de Montréal, Hôpital Notre-Dame, 1560 Sherbrooke Est, Montreal, QC, Canada H2L 4M1.
Carlos J
CJ
Miranda
Manuela M
MM
Santos
Keiichi
K
Ohshima
Marco
M
Tessaro
Jorge
J
Sequeiros
Massimo
M
Pandolfo
D000818:Animals; D017931:DNA Primers; D004906:Erythrocyte Count; D005621:Friedreich Ataxia / Q000097:blood / Q000235:genetics*; D006400:Hematocrit; D006410:Hematopoiesis / Q000235:genetics; D006801:Humans; D007501:Iron / Q000378:metabolism; D033862:Iron-Binding Proteins / Q000235:genetics*; D051379:Mice; D008817:Mice, Mutant Strains; D008822:Mice, Transgenic; D016133:Polymerase Chain Reaction; D014168:Transferrin / Q000378:metabolism; D000096923:Frataxin
D017931:DNA Primers; D007501:Iron; D033862:Iron-Binding Proteins; D014168:Transferrin; D000096923:Frataxin