Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.
Hum Mol Genet
; 6(11): 1771-80, 1997 Oct.
Article
em En
| MEDLINE
| ID: mdl-9302253
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxia de Friedreich
/
Fosfotransferases (Aceptor do Grupo Álcool)
/
Proteínas de Ligação ao Ferro
/
Membranas Intracelulares
/
Proteínas de Membrana
/
Mitocôndrias
Tipo de estudo:
Risk_factors_studies
Limite:
Animals
/
Humans
Idioma:
En
Revista:
Hum Mol Genet
Assunto da revista:
BIOLOGIA MOLECULAR
/
GENETICA MEDICA
Ano de publicação:
1997
Tipo de documento:
Article
País de afiliação:
França