Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia

Annals of Neurology

Volumn 49, Issue 5, 2001, Pages 590-596

  Lodi, Raffaele ^a,b,e   Hart, Paul E ^c   Rajagopalan, Bheeshma ^a   Taylor, Doris J ^a   Crilley, Jenifer G ^a   Bradley, Jane L ^c   Blamire, Andrew M ^a   Manners, David ^a   Styles, Peter ^f   Schapira, Anthony H V ^c,d   Cooper, J Mark ^c  

^a OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^b UNIVERSITY OF BOLOGNA   (Italy)

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

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF BOLOGNA   (Italy)

^f NONE

Author keywords

[No Author keywords available]

Indexed keywords

ACONITATE HYDRATASE; ADENOSINE TRIPHOSPHATE; ALPHA TOCOPHEROL; CREATINE PHOSPHATE; FRATAXIN; IRON; TRINUCLEOTIDE; UBIDECARENONE;

ADOLESCENT; ADULT; ARTICLE; BIOENERGY; CARDIOMYOPATHY; CLINICAL ARTICLE; CONTROLLED STUDY; ECHOCARDIOGRAPHY; ENERGY METABOLISM; FEMALE; FRIEDREICH ATAXIA; GENE; HEART; HUMAN; MALE; OXIDATIVE STRESS; PHOSPHORUS NUCLEAR MAGNETIC RESONANCE; PRIORITY JOURNAL; RESPIRATORY CHAIN; SKELETAL MUSCLE;

ADOLESCENT; ADULT; ANTIOXIDANTS; ECHOCARDIOGRAPHY; ENERGY METABOLISM; FEMALE; FRIEDREICH ATAXIA; HUMANS; KINETICS; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MUSCLES; MYOCARDIUM; TIME FACTORS;

EID: 0035020940     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.1001     Document Type: Article

References (30)

1. Harding AE. Friedreich's ataxia: a clinical and generic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981;104:598-620.
2. Durr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 1996;335:1169-1175.
3. Campuzano V, Montermini L, Molto MD, et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 1996;271:1423-1427.
4. Campuzano V, Montermini L, Lutz Y, et al. Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 1997;6:1771-1780.
5. Babcock M, DeSilva D, Oaks R, et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 1997;276:1709-1712.
6. Koutnikova H, Campuzano V, Foury F, et al. Studies of human, mouse and yeast homologoues indicate a mitochondrial function for frataxin. Nature Genet 1997;16:345-351.
7. Wilson RB, Roof DM. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nature Genet 1997;16:352-357.
8. Foury F, Cazzalini O. Deletion of yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria. FEBS Lett 1997;411:373-377.
9. Lamarche JB, Cote M, Lemieux B. The cardiomyopathy of Friedreich's ataxia morphological observations in 3 cases. Can J Neurol Sci 1980;7:389-396.
10. Rotig A, Lonlay PD, Chretien D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nature Genet 1997;17:215-217.
11. Bradley J, Blake J, Chamberlain S, et al. Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia. Hum Mol Genet 2000;9:275-282.
12. Lodi R, Blamire AM, Cooper JM, et al. 31P-MRS shows reduced cardiac PCr/γ-ATP in patients with Friedreich's ataxia in the absence of left ventricular dysfunction. Proc Int Magn Reson Med 1999;7:282.
13. Lodi R, Cooper JM, Bradley JL, et al. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc Natl Acad Sci USA 1999;96:11492-11495.
14. Trouillas P, Takayanagi T, Hallett M, et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci 1997;145:205-211.
15. Henry WL, Gardin JM, Ware JH. Echocardiographic measurements in normal subjects from infancy to old age. Circulation 1980;62:1054 -1061.
16. 31P NMR signals using the variable projection method and prior knowledge. Magn Reson Med 1988;6:92-98.
17. van den Boogan A. Quantitative data analysis of in vivo MRS data sets. Magn Reson Chem 1997;35:S146-S152.
18. van den Boogart A: MRUI Manual v96.3: a user's guide to the Magnetic Resonance User Interface software package. University of Delft, 1997.
19. Kemp GJ, Taylor DJ, Radda GK. Control of phosphocreatine resynthesis during recovery from exercise in human skeletal muscle. NMR Biomed 1993;6:66-72.
20. Bottomley PA, Ouwerkerk R. Optimum flip-angles for exciting NMR with uncertain T1 values. Magn Reson Med 1994;32: 137-141.
21. Blamire AM, Rajagopalan B, Radda GK. Measurement of myocardial pH by saturation transfer in man. Magn Reson Med 1999;41:198-203.
22. Conway MA, Bottomley PA, Ouwerkerk R, et al. Mitral regurgitation: impaired systolic function, eccentric hypertrophy, and increased severity are linked to lower phosphocreatine/ATP ratios in humans. Circulation 1998;97:1716-1723.
23. Ingwall JS, Kramer MF, Fifer MA. The creatine kinase system in normal and diseased human myocardium. N Engl J Med 1985;313:1050-1054.
24. Radda GK. The use of NMR spectroscopy for the understanding of disease. Science 1986;233:640-645.
25. Shults CW, Beal MF, Fontaine D, et al. Absorption, tolerability, and effects on mitochondrial activity of oral coenzyme Q10 in parkinsonian patients. Neurology 1998;50:793-795.
26. Vatassery GT, Fahn S, Kuskowski MA. Alpha tocopherol in CSF of subjects taking high-dose vitamin E in the DATATOP study. Parkinson Study Group. Neurology 1998;50:1900-1902.
27. Stoyanovsky DA, Osipov AN, Quinn PJ, Kagan VE. Ubiquinone-dependent recycling of vitamin E radicals by superoxide. Arch Biochem Biophys 1995;323:343-351.
28. Ernster L, Dallner G. Biochemical, physiological and medical aspects of ubiquinone function. Biochim Biophys Acta 1995; 1271:195-204.
29. Esposito LA, Melov S, Panov A, et al. Mitochondrial disease in mouse results in increased oxidative stress. Proc Natl Acad Sci USA 1999;96:4820-4825.
30. Rustin P, von Kleist-Retzow JC, Chantrel-Groussard K, et al. Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet 1999;354:477-479.