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Frataxin overexpressing mice
Author(s) -
Miranda Carlos J,
Santos Manuela M,
Ohshima Keiichi,
Tessaro Marco,
Sequeiros Jorge,
Pandolfo Massimo
Publication year - 2004
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/j.febslet.2004.07.022
Subject(s) - frataxin , ataxia , iron binding proteins , genetically modified mouse , transgene , oxidative stress , function (biology) , chemistry , biology , haematopoiesis , microbiology and biotechnology , biochemistry , gene , neuroscience , stem cell
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.