Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

V Campuzano, L Montermini, Y Lutz… - Human molecular …, 1997 - academic.oup.com
V Campuzano, L Montermini, Y Lutz, L Cova, C Hindelang, S Jiralerspong, Y Trottier
Human molecular genetics, 1997academic.oup.com
Friedreich ataxia is a progressive neurodegenerative disorder caused by loss of function
mutations in the frataxin gene. In order to unravel frataxin function we developed
monoclonal antibodies raised against different regions of the protein. These antibodies
detect a processed 18 kDa protein in various human and mouse tissues and cell lines that is
severely reduced in Friedreich ataxia patients. By immunocytofluorescence and
immunocytoelectron microscopy we show that frataxin is located in mitochondria, associated …
Abstract
Friedreich ataxia is a progressive neurodegenerative disorder caused by loss of function mutations in the frataxin gene. In order to unravel frataxin function we developed monoclonal antibodies raised against different regions of the protein. These antibodies detect a processed 18 kDa protein in various human and mouse tissues and cell lines that is severely reduced in Friedreich ataxia patients. By immunocytofluorescence and immunocytoelectron microscopy we show that frataxin is located in mitochondria, associated with the mitochondrial membranes and crests. Analysis of cellular localization of various truncated forms of frataxin expressed in cultured cells and evidence of removal of an N-terminal epitope during protein maturation demonstrated that the mitochondrial targetting sequence is encoded by the first 20 amino acids. Given the shared clinical features between Friedreich ataxia, vitamin E deficiency and some mitochondriopathies, our data suggest that a reduction in frataxin results in oxidative damage.
Oxford University Press