Mitochondrial impairment of human muscle in Friedreich ataxia in vivo

Neuromuscular Disorders

Volumn 10, Issue 6, 2000, Pages 430-435

  Vorgerd, M ^a   Schols L ^b   Hardt, C ^c   Ristow, M ^d   Epplen, J T ^c   Zange, J ^e  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b ST JOSEF HOSPITAL   (Germany)

^c RUHR UNIVERSITY BOCHUM   (Germany)

^d HARVARD MEDICAL SCHOOL   (United States)

^e GERMAN AEROSPACE CENTER DLR   (Germany)

Author keywords

Friedreich ataxia; Magnetic resonance spectroscopy; Mitochondrial function; Oxidative phosphorylation; Skeletal muscle

Indexed keywords

ADENOSINE TRIPHOSPHATE; CREATINE PHOSPHATE; FRATAXIN;

ADULT; ARTICLE; CLINICAL ARTICLE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENERGY METABOLISM; FEMALE; FRIEDREICH ATAXIA; GASTROCNEMIUS MUSCLE; GENE MUTATION; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRIAL RESPIRATION; OXIDATIVE PHOSPHORYLATION; PHOSPHORUS NUCLEAR MAGNETIC RESONANCE; PRIORITY JOURNAL; RESPIRATORY CHAIN; SKELETAL MUSCLE;

ADENOSINE TRIPHOSPHATE; ADOLESCENT; ADULT; AGE FACTORS; ALLELES; EXERCISE TEST; FEMALE; FRIEDREICH ATAXIA; HUMANS; IRON-BINDING PROTEINS; ISOMETRIC CONTRACTION; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MIDDLE AGED; MITOCHONDRIA, MUSCLE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, DUCHENNE; PHOSPHOCREATINE; PHOSPHORUS ISOTOPES; PHOSPHOTRANSFERASES (ALCOHOL GROUP ACCEPTOR); TRINUCLEOTIDE REPEATS;

EID: 0343953522     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(00)00108-5     Document Type: Article

References (15)

1. Campuzano V., Montermini L., Lutz Y., et al. Frataxin is reduced in Friedreich's ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet. 6:1997;1771-1780.
2. Campuzano V., Montermini L., Moltò M.D., et al. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 271:1996;1423-1427.
3. Jiralerspong S., Liu Y., Montermini L., Stifani S., Pandolfo M. Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo. Neurobiol Dis. 4:1997;103-113.
4. Koutnikova H., Campuzano V., Foury F., Dolle P., Cazzalini O., Koenig M. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin. Nat Genet. 16:1997;345-351.
5. Babcock M., de Silva D., Oaks R., et al. Regulation of mitochondrial iron accumulation by Yfh 1p, a putative homolog of frataxin. Science. 276:1997;1709-1712.
6. Rötig A., de Lomlay P., Chretien D., et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich's ataxia. Nat Genet. 17:1997;215-217.
7. Kemp G.J., Taylor D.J., Radda G.K. Control of phosphocreatine resynthesis during recovery from exercise in human skeletal muscle. NMR Biomed. 6:1993;66-72.
8. n tract in the Friedreich Ataxia (STM7) gene. Hum Genet. 99:1997;834-836.
9. 31P nuclear magnetic resonance study. Mol Biol Med. 1:1983;77-94.
10. Schöls L., Reichmann H., Amoiridis G., Seibel P., Wagener S., Seufert S., Przuntek H. Mitochondrial disorders in degenerative ataxias. Eur J Neurol. 3:1996;55-60.
11. Lodi R., Cooper J.M., Bradley J.L., Manners D., Styles P., Taylor D.J., Schapira A.H.V. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc Natl Acad Sci USA. 96:1999;11492-11495.
12. Berg H.E., Dudley G.A., Hather B., Tesch P.A. Work capacity and metabolic and morphologic characteristics of the human quadriceps muscle in response to unloading. Clin Physiol. 13:1993;337-347.
13. 2 consumption in man after prolonged bed rest. J Physiol (Lond). 501:1997;677-686.
14. Dürr A., Cossee M., Agid Y., et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med. 335:1996;1169-1175.
15. Schöls L., Amoiridis G., Przuntek H., Frank G., Epplen J.T., Epplen C. Friedreich's ataxia: revision of the phenotype according to molecular genetics. Brain. 120:1997;2131-2140.