Human Molecular Genetics, Vol 6, 1771-1780, Copyright © 1997 by Oxford University Press
V Campuzano, L Montermini, Y Lutz, L Cova, C Hindelang, S Jiralerspong, Y Trottier, SJ Kish, B Faucheux, P Trouillas, FJ Authier, A Durr, JL Mandel, A Vescovi, M Pandolfo and M Koenig
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.
ARTICLES
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
Institut de Genetique et de Biologie Moleculaire et Cellulaire, INSERM- CNRS-ULP, Illkirch, France.
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N. Sakamoto, J. E. Larson, R. R. Iyer, L. Montermini, M. Pandolfo, and R. D. Wells GGA{middle dot}TCC-interrupted Triplets in Long GAA{middle dot}TTC Repeats Inhibit the Formation of Triplex and Sticky DNA Structures, Alleviate Transcription Inhibition, and Reduce Genetic Instabilities J. Biol. Chem., July 13, 2001; 276(29): 27178 - 27187. [Abstract] [Full Text] [PDF]
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N. Sakamoto, K. Ohshima, L. Montermini, M. Pandolfo, and R. D. Wells Sticky DNA, a Self-associated Complex Formed at Long GAA{middle dot}TTC Repeats in Intron 1 of the Frataxin Gene, Inhibits Transcription J. Biol. Chem., July 13, 2001; 276(29): 27171 - 27177. [Abstract] [Full Text] [PDF]
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S.-J. Cho, M. G. Lee, J. K. Yang, J. Y. Lee, H. K. Song, and S. W. Suh Crystal structure of Escherichia coli CyaY protein reveals a previously unidentified fold for the evolutionarily conserved frataxin family PNAS, August 1, 2000; 97(16): 8932 - 8937. [Abstract] [Full Text] [PDF]
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M. Ristow, M. F. Pfister, A. J. Yee, M. Schubert, L. Michael, C.-Y. Zhang, K. Ueki, M. D. Michael II, B. B. Lowell, and C. R. Kahn Frataxin activates mitochondrial energy conversion and oxidative phosphorylation PNAS, October 24, 2000; 97(22): 12239 - 12243. [Abstract] [Full Text] [PDF]
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