Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia

Human Molecular Genetics

Volumn 9, Issue 2, 2000, Pages 275-282

  Bradley, J L ^a   Blake, J C ^a   Chamberlain, S ^b   Thomas, P K ^a,c   Cooper, J M ^a   Schapira, A H V ^a,c  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACONITATE HYDRATASE; AMINO ACID; CITRATE SYNTHASE; FRATAXIN; HEART ENZYME; IRON SULFUR PROTEIN; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); UBIQUINOL CYTOCHROME C REDUCTASE;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CELL DEATH; CEREBELLUM; CLINICAL ARTICLE; CLINICAL GENETICS; CYTOTOXICITY; DORSAL ROOT; ENZYME ACTIVITY; FRIEDREICH ATAXIA; GANGLION; HUMAN; HUMAN CELL; HUMAN TISSUE; INTRON; IRON STORAGE; KNOCKOUT GENE; LIVER; MOLECULAR GENETICS; OXIDATIVE STRESS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RESPIRATORY CHAIN; SKELETAL MUSCLE; SPLEEN;

ATAXIA;

EID: 0033957174     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.2.275     Document Type: Article

References (20)

1. Chamberlain, S., Shaw, J., Rowland, A., Wallis, J., South, S., Nakamura, Y., Von Gabain, A., Farrall, M. and Williamson, R. (1988) Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature, 334, 248-250.
2. Campuzano, V., Montermini, L., Molto, M.D., Pianese, L., Cossee, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticella, A. et al. (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science, 217, 1423-1427.
3. Priller, J., Scherzer, C.R., Faber, P.W., MacDonald, M.E. and Young, A.B. (1997) Frataxin gene of Friedreich's ataxia is targeted to mitochondria. Ann. Neurol., 42, 265-269.
4. Campuzano, V., Montermini, L., Lutz, Y., Cova, L., Hindelang, C., Jiralerspong, S., Trottier, Y., Kish, S.J., Faucheux, B., Trouillas, P. et al. (1997) Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum. Mol. Genet., 6, 1771-1780.
5. Babcock, M., DeSilva, D., Oaks, R., Davis-Kaplan, S., Jiralerspong, S., Montermini, L., Pandolfo, M. and Kaplan, J. (1997) Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science, 276, 1709-1712.
6. Ouahchi, K., Arita, M., Kayden, H., Hentati, F., Ben Hamida, M., Sokol, R., Aria, H., Inoue, K., Mandel, J.L. and Koenig, M. (1995) Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nature Genet., 9, 141-145.
7. La Marche, J.B., Cote, M. and Lemieux, B. (1980) The cardiomyopathy of Friedreich's ataxia. Can. J. Neurosci., 7, 389-396.
8. Rötig, A., De Lonlay, P., Chretien, D., Foury, F., Koenig, M., Sidi, D., Munnich, A. and Rustin, P. (1997) Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nature Genet., 17, 215-217.
9. Lodi, R., Cooper, J.M., Bradley, J.L., Manners, M., Styles, P., Taylor, D.J. and Schapira, A.H.V. (1999) Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc. Natl Acad. Sci. USA, 96, 11492-11495.
10. Wilson, R.B. and Roof, D.M. (1997) Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nature Genet., 16, 152-357.
11. Sanyal, A., Harington, A., Herbert, C.J., Groudinsky, O., Slonimski, P.P., Tung, B. and Getz, G.S. (1995) Heat shock protein HSP60 can alleviate the phenotype of mitochondrial RNA-deficient temperature-sensitive mna2 pet mutants. Mol. Gen. Genet., 246, 56-64.
12. Sanchez-Casis, G., Cote, M. and Barbeau, A. (1976) Pathology of the heart in Friedreich's ataxia. Can. J. Neurosci., 3, 349-354.
13. Schapira, A.H.V., Cooper, J.M., Morgan-Hughes, J.A., Landon, D.N. and Clark, J.B. (1990) Mitochondrial myopathy with a defect of mitochondrial protein transport. N. Engl. J. Med., 323, 37-42.
14. Hausladen, A. and Fridovich, I. (1994) Superoxide and peroxynitrite inactivates aconitases, but nitric oxide does not. J. Biol. Chem., 269, 29405-29408.
15. Turrens, J.F. and Boveris, A. (1980) Generation of superoxide anion by the NADH dehydrogenase of bovine heart mitochondria. Biochem. J., 191, 421-427.
16. Melov, S., Coskun, P., Patel, M., Tuinstra, R., Cottrell, B., Jun, A.S., Zastawny, T.H., Dizdaroglu, M., Goodman, S.I., Huang, T.T. et al. (1999) Mitochondrial disease in superoxide dismutase 2 mutant mice. Proc. Natl Acad. Sci. USA, 96, 846-851.
17. Schapira, A.H.V. (1996) Oxidative stress and mitochondrial dysfunction in neurodegeneration. Curr. Opin. Neurol., 9, 260-264.
18. Schapira, A.H.V., Mann, V.M., Cooper, J.M., Dexter, D., Daniel, S.E., Jenner, P., Clark, J.B. and Marsden, C.D. (1990) Anatomic and disease specificity of NADH CoQ1 reductase (complex I) deficiency in Parkinson's disease. J. Neurochem., 55, 2142-2145.
19. Gardner, P.R., Nguyen, D.D.H. and White, C.W. (1994) Aconitase is a sensitive and critical target of oxygen poisoning in cultured mammalian cells and rat lungs. Proc. Natl Acad. Sci. USA, 91, 12248-12252.
20. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual. 2nd edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York, NY, pp. 3-4.