Flavin adenine dinucleotide rescues the phenotype of frataxin deficiency

PLoS ONE

Volumn 5, Issue 1, 2010, Pages

  Gonzalez Cabo, Pilar ^a,b   Ros, Sheila ^a,b,c   Palau, Francesc ^a,b  

^a INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c Life Sequencing   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

FLAVINE ADENINE NUCLEOTIDE; FLAVINE MONONUCLEOTIDE; FRATAXIN; RIBOFLAVIN; ADENOSINE TRIPHOSPHATE; IRON BINDING PROTEIN;

ARTICLE; CAENORHABDITIS ELEGANS; CELL GROWTH; DRUG EFFECT; ENZYME ACTIVITY; FRIEDREICH ATAXIA; FUNGAL STRAIN; FUNGUS CULTURE; GONAD; HOMOLOGOUS RECOMBINATION; LIFESPAN; MICROINJECTION; MITOCHONDRIAL RESPIRATION; NONHUMAN; PHENOTYPE; RESPIRATORY CHAIN; SACCHAROMYCES CEREVISIAE; WORM; ANIMAL; BIOLOGICAL MODEL; BIOSYNTHESIS; DOSE RESPONSE; GENE SILENCING; GENETIC RECOMBINATION; GENETICS; OXIDATIVE PHOSPHORYLATION; PHYSIOLOGY;

CAENORHABDITIS ELEGANS; SACCHAROMYCES CEREVISIAE;

ADENOSINE TRIPHOSPHATE; ANIMALS; CAENORHABDITIS ELEGANS; DOSE-RESPONSE RELATIONSHIP, DRUG; FLAVIN-ADENINE DINUCLEOTIDE; GENE KNOCKDOWN TECHNIQUES; IRON-BINDING PROTEINS; MODELS, BIOLOGICAL; OXIDATIVE PHOSPHORYLATION; PHENOTYPE; RECOMBINATION, GENETIC; SACCHAROMYCES CEREVISIAE;

EID: 77749273577     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0008872     Document Type: Article

References (55)

1. Durr A, Cossee M, Agid Y, Campuzano V, Mignard C, et al. (1996) Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 335: 1169-1175.
2. Harding AE (1981) Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104: 589-620.
3. Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, et al. (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271: 1423-1427.
4. Cossee M, Durr A, Schmitt M, Dahl N, Trouillas P, et al. (1999) Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol 45: 200-206.
5. De Castro M, Garcia-Planells J, Monros E, Canizares J, Vazquez-Manrique R, et al. (2000) Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients. Hum Genet 106: 86-92.
6. Priller J, Scherzer CR, Faber PW, MacDonald ME, Young AB (1997) Frataxin gene of Friedreich's ataxia is targeted to mitochondria. Ann Neurol 42: 265-269.
7. Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, et al. (1997) Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 6: 1771-1780.
8. Babcock M, de Silva D, Oaks R, Davis-Kaplan S, Jiralerspong S, et al. (1997) Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin. Science 276: 1709-1712.
9. Yoon T, Cowan JA (2003) Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins. J Am Chem Soc 125: 6078-6084.
10. Gerber J, Muhlenhoff U, Lill R (2003) An interaction between frataxin and Isu1/Nfs1 that is crucial for Fe/S cluster synthesis on Isu1. EMBO Rep 4: 906-911.
11. Ramazzotti A, Vanmansart V, Foury F (2004) Mitochondrial functional interactions between frataxin and Isu1p, the iron-sulfur cluster scaffold protein, in Saccharomyces cerevisiae. FEBS Lett 557: 215-220.
12. Bulteau AL, O'Neill HA, Kennedy MC, Ikeda-Saito M, Isaya G, et al. (2004) Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity. Science 305: 242-245.
13. Waldvogel D, van Gelderen P, Hallett M (1999) Increased iron in the dentate nucleus of patients with Friedrich's ataxia. Ann Neurol 46: 123-125.
14. Ristow M, Pfister MF, Yee AJ, Schubert M, Michael L, et al. (2000) Frataxin activates mitochondrial energy conversion and oxidative phosphorylation. Proc Natl Acad Sci U S A 97: 12239-12243.
15. Gonzalez-Cabo P, Vazquez-Manrique RP, Garcia-Gimeno MA, Sanz P, Palau F (2005) Frataxin interacts functionally with mitochondrial electron transport chain proteins. Hum Mol Genet 14: 2091-2098.
16. Rustin P, von Kleist-Retzow JC, Chantrel-Groussard K, Sidi D, Munnich A, et al. (1999) Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study. Lancet 354: 477-479.
17. Schols L, Vorgerd M, Schillings M, Skipka G, Zange J (2001) Idebenone in patients with Friedreich ataxia. Neurosci Lett 306: 169-172.
18. Rustin P, Rotig A, Munnich A, Sidi D (2002) Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia. Free Radic Res 36: 467-469.
19. Hausse AO, Aggoun Y, Bonnet D, Sidi D, Munnich A, et al. (2002) Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart 87: 346-349.
20. Mariotti C, Solari A, Torta D, Marano L, Fiorentini C, et al. (2003) Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology 60: 1676-1679.
21. Buyse G, Mertens L, Di Salvo G, Matthijs I, Weidemann F, et al. (2003) Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring. Neurology 60: 1679-1681.
22. Di Prospero NA, Baker A, Jeffries N, Fischbeck KH (2007) Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial. Lancet Neurol 6: 878-886.
23. Pineda M, Arpa J, Montero R, Aracil A, Dominguez F, et al. (2008) Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up. Eur J Paediatr Neurol 12: 470-475.
24. Murphy MP (2001) Development of lipophilic cations as therapies for disorders due to mitochondrial dysfunction. Expert Opin Biol Ther 1: 753-764.
25. Jauslin ML, Meier T, Smith RA, Murphy MP (2003) Mitochondria-targeted antioxidants protect Friedreich Ataxia fibroblasts from endogenous oxidative stress more effectively than untargeted antioxidants. Faseb J 17: 1972-1974.
26. Richardson DR, Mouralian C, Ponka P, Becker E (2001) Development of potential iron chelators for the treatment of Friedreich's ataxia: ligands that mobilize mitochondrial iron. Biochim Biophys Acta 1536: 133-140.
27. Boddaert N, Le Quan Sang KH, Rotig A, Leroy-Willig A, Gallet S, et al. (2007) Selective iron chelation in Friedreich ataxia: biologic and clinical implications. Blood 110: 401-408.
28. Herman D, Jenssen K, Burnett R, Soragni E, Perlman SL, et al. (2006) Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat Chem Biol 2: 551-558.
29. Festenstein R (2006) Breaking the silence in Friedreich's ataxia. Nat Chem Biol 2: 512-513.
30. Grant L, Sun J, Xu H, Subramony SH, Chaires JB, et al. (2006) Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich's ataxia. FEBS Lett 580: 5399-5405.
31. Rai M, Soragni E, Jenssen K, Burnett R, Herman D, et al. (2008) HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. PLoS ONE 3: e1958.
32. Lodi R, Cooper JM, Bradley JL, Manners D, Styles P, et al. (1999) Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc Natl Acad Sci U S A 96: 11492-11495.
33. Vazquez-Manrique RP, Gonzalez-Cabo P, Ros S, Aziz H, Baylis HA, et al. (2006) Reduction of Caenorhabditis elegans frataxin increases sensitivity to oxidative stress, reduces lifespan, and causes lethality in a mitochondrial complex II mutant. Faseb J 20: 172-174.
34. Eaton S (2002) Control of mitochondrial beta-oxidation flux. Prog Lipid Res 41: 197-239.
35. Cecchini G (2003) Function and structure of complex II of the respiratory chain. Annu Rev Biochem 72: 77-109.
36. Bernsen PL, Gabreels FJ, Ruitenbeek W, Hamburger HL (1993) Treatment of complex I deficiency with riboflavin. J Neurol Sci 118: 181-187.
37. Kmoch S, Zeman J, Hrebicek M, Ryba L, Kristensen MJ, et al. (1995) Riboflavin-responsive epilepsy in a patient with SER209 variant form of shortchain acyl-CoA dehydrogenase. J Inherit Metab Dis 18: 227-229.
38. Bentlage H, de Coo R, ter Laak H, Sengers R, Trijbels F, et al. (1995) Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies. Eur J Biochem 227: 909-915.
39. Yilmaz K (2008) Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria. Eur J Paediatr Neurol.
40. Bugiani M, Lamantea E, Invernizzi F, Moroni I, Bizzi A, et al. (2006) Effects of riboflavin in children with complex II deficiency. Brain Dev 28: 576-581.
41. Avery L, Thomas JH (1997) Feeding and Defecation. In: Riddle DL, BT, Meyer BJ, Priess JR, eds. C elegans II. New York: Cold Spring Harbor Laboratory Press. pp 679-716 .
42. Scholte HR, Busch HF, Bakker HD, Bogaard JM, Luyt-Houwen IE, et al. (1995) Riboflavin-responsive complex I deficiency. Biochim Biophys Acta 1271: 75-83.
43. Ogle RF, Christodoulou J, Fagan E, Blok RB, Kirby DM, et al. (1997) Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin. J Pediatr 130: 138-145.
44. Pinard JM, Marsac C, Barkaoui E, Desguerre I, Birch-Machin M, et al. (1999) [Leigh syndrome and leukodystrophy due to partial succinate dehydrogenase deficiency: regression with riboflavin]. Arch Pediatr 6: 421-426.
45. Gregersen N (1985) Riboflavin-responsive defects of beta-oxidation. J Inherit Metab Dis 8 Suppl 1: 65-69.
46. Antozzi C, Garavaglia B, Mora M, Rimoldi M, Morandi L, et al. (1994) Lateonset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency. Neurology 44: 2153-2158.
47. Scholte HR, Busch HF, Luyt-Houwen IE (1992) Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis. J Inherit Metab Dis 15: 331-334.
48. Bell RB, Brownell AK, Roe CR, Engel AG, Goodman SI, et al. (1990) Electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) deficiency in an adult. Neurology 40: 1779-1782.
49. Penn AM, Lee JW, Thuillier P, Wagner M, Maclure KM, et al. (1992) MELAS syndrome with mitochondrial tRNA(Leu)(UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin. Neurology 42: 2147-2152.
50. Bafunno V, Giancaspero TA, Brizio C, Bufano D, Passarella S, et al. (2004) Riboflavin uptake and FAD synthesis in Saccharomyces cerevisiae mitochondria: involvement of the Flx1p carrier in FAD export. J Biol Chem 279: 95-102.
51. Reihl P, Stolz J (2005) The monocarboxylate transporter homolog Mch5p catalyzes riboflavin (vitamin B2) uptake in Saccharomyces cerevisiae. J Biol Chem 280: 39809-39817.
52. Vergani L, Barile M, Angelini C, Burlina AB, Nijtmans L, et al. (1999) Riboflavin therapy. Biochemical heterogeneity in two adult lipid storage myopathies. Brain 122 (Pt 12): 2401-2411.
53. Gold DR, Cohen BH (2001) Treatment of mitochondrial cytopathies. Semin Neurol 21: 309-325.
54. Glick BS, Pon LA (1995) Isolation of highly purified mitochondria from Saccharomyces cerevisiae. Methods Enzymol 260: 213-223.
55. Brenner S (1974) The genetics of Caenorhabditis elegans. Genetics 77: 71-94.