Therapeutic developments in Friedreich ataxia

Journal of Child Neurology

Volumn 27, Issue 9, 2012, Pages 1212-1216

  Wilson, Robert B ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

experimental therapeutics; Friedreich ataxia; iron; mitochondria; mitochondrial; sulfur; trinucleotide repeat disorders

Indexed keywords

ADENINE; ADENOSINE TRIPHOSPHATE; ALPHA TOCOTRIENOL QUINONE; DEFERIPRONE; FERROUS ION; FRATAXIN; GINKGO BILOBA EXTRACT; GUANINE; HISTONE DEACETYLASE INHIBITOR; HYDROXYL RADICAL; IDEBENONE; IRON; OX 1; PEROXIDE; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA COACTIVATOR 1ALPHA; PIOGLITAZONE; REACTIVE OXYGEN METABOLITE; RECOMBINANT ERYTHROPOIETIN; SUPEROXIDE; UNCLASSIFIED DRUG;

ATAXIA RATING SCALE; CARDIOMYOPATHY; CONFERENCE PAPER; CYTOSOL; DENTATE NUCLEUS; DISEASE ASSOCIATION; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EMBRYO DEATH; EXON; FRANCE; FRIEDREICH ATAXIA; GENE INACTIVATION; HIGH THROUGHPUT SCREENING; HUMAN; INTELLECT; IRON DEPLETION; MITOCHONDRION; NEUROSCIENCE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; OXIDATION REDUCTION POTENTIAL; OXIDATIVE STRESS; PHASE 1 CLINICAL TRIAL (TOPIC); PHASE 3 CLINICAL TRIAL (TOPIC); PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; RATING SCALE; SURVIVAL;

ANIMALS; FRIEDREICH ATAXIA; GENE EXPRESSION REGULATION; HUMANS; IRON; IRON-BINDING PROTEINS; MITOCHONDRIA; OXIDATIVE STRESS;

EID: 84865656757     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073812449691     Document Type: Conference Paper

References (58)

1. Durr A, Cossee M, Agid Y, et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. New Engl J Med. 1996 ; 335: 1169-1175 (Pubitemid 26339770)
2. Santos R, Lefevre S, Sliwa D, et al. Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities. Antioxid Redox Signal. 2010 ; 13: 651-690
3. Schmucker S, Puccio H. Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches. Hum Mol Genet. 2010 ; 19: R103 - R110
4. Pandolfo M. Friedreich ataxia. Arch Neurol. 2008 ; 65: 1296-1303
5. 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 (Pubitemid 26089479)
6. Pandolfo M. Molecular pathogenesis of Friedreich's ataxia. Neurol Rev. 1999 ; 56: 1201-1208
7. Ohshima K, Montermini L, Wells RD, Pandolfo M. Inhibitory effects of expanded GAA-TTC triplet repeats from intron I of the Friedreich Ataxia gene on transcription and replication in vivo. J Biol Chem. 1998 ; 273: 14588-14595 (Pubitemid 28319183)
8. Sakamoto N. Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia. Mol Cell. 1999 ; 3: 465-475 (Pubitemid 29292603)
9. Cossee M, Puccio H, Gansmuller A, et al. Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. Hum Mol Genetics. 2000 ; 9: 1219-1226 (Pubitemid 30248608)
10. Gottesfeld JM. Small molecules affecting transcription in Friedreich ataxia. Pharmacol Ther. 2007 ; 116: 236-248 (Pubitemid 47469990)
11. Herman D, Jenssen K, Burnett R, et al. Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat Chem Biol. 2006 ; 2: 551-558 (Pubitemid 44413238)
12. Rai M, Soragni E, Jenssen K, et al. HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. PLoS One. 2008 ; 3: e1958
13. Sturm B, Stupphann D, Kaun C, et al. Recombinant human erythropoietin: effects on frataxin expression in vitro. Eur J Clin Invest. 2005 ; 35: 711-717 (Pubitemid 41640907)
14. Acquaviva F, Castaldo I, Filla A, et al. Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression. Cerebellum. 2008 ; 7: 360-365
15. Boesch S, Sturm B, Hering S, et al. Friedreich's ataxia: clinical pilot trial with recombinant human erythropoietin. Ann Neurol. 2007 ; 62: 521-524 (Pubitemid 350308777)
16. Boesch S, Sturm B, Hering S, et al. Neurological effects of recombinant human erythropoietin in Friedreich's ataxia: a clinical pilot trial. Mov Disord. 2008 ; 23: 1940-1944
17. Tefferi A. Pharmaceutical erythropoietin use in patients with cancer: is it time to abandon ship or just drop anchor?. Mayo Clin Proc. 2007 ; 82: 1316-1318 (Pubitemid 350060126)
18. Bennett CL, Silver SM, Djulbegovic B, et al. Venous thromboembolism and mortality associated with recombinant erythropoietin and darbepoetin administration for the treatment of cancer-associated anemia. JAMA. 2008 ; 299: 914-924 (Pubitemid 351397066)
19. Sytkowski AJ. Does erythropoietin have a dark side? Epo signaling and cancer cells. Sci STKE. 2007;2007 ;: pe38
20. Pollock C, Johnson DW, Horl WH, et al. Pure red cell aplasia induced by erythropoiesis-stimulating agents. Clin J Am Soc Nephrol. 2008 ; 3: 193-199
21. Sacca F, Puorro G, Antenora A, et al. A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design. PLoS ONE. 2011 ; 6: e17627
22. Coppola G, Marmolino D, Lu D, et al. Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARgamma pathway as a therapeutic target in Friedreich's ataxia. Hum Mol Genet. 2009 ; 18: 2452-2461
23. Babady NE, Carelle N, Wells RD, et al. Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments. Mol Genet Metab. 2007 ; 92: 23-35 (Pubitemid 47361887)
24. Krentz A. Thiazolidinediones: effects on the development and progression of type 2 diabetes and associated vascular complications. Diabetes Metab Res Rev. 2009 ; 25: 112-126
25. Vyas PM, Tomamichel WJ, Pride PM, et al. A TAT-Frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model. Hum Mol Genet. 2012 ; 21: 1230-1247
26. Puccio H, Simon D, Cossee M, et al. Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet. 2001 ; 27: 181-186 (Pubitemid 32157445)
27. Muhlenhoff U, Richhardt N, Ristow M, et al. The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins. Hum Mol Genet. 2002 ; 11: 2025-2036 (Pubitemid 34919277)
28. Muhlenhoff U, Gerber J, Richhardt N, Lill R. Components involved in assembly and dislocation of iron-sulfur clusters on the scaffold protein Isu1p. Embo J. 2003 ; 22: 4815-4825 (Pubitemid 37162917)
29. Babcock M, de Silva D, Oaks R, et al. Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of Frataxin. Science. 1997 ; 276: 1709-1712 (Pubitemid 27421980)
30. Wilson RB, Roof DM. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Nat Genet. 1997 ; 16: 352-357 (Pubitemid 27323299)
31. Foury F, Cazzalini O. Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria. FEBS Lett. 1997 ; 411: 373-377 (Pubitemid 27301488)
32. Radisky DC, Babcock MC, Kaplan JK. The yeast frataxin homologue mediates mitochondrial iron efflux: evidence for a mitochondrial iron cycle. J Biol Chem. 1999 ; 274: 4497-4499
33. Foury F. Low iron concentration and aconitase deficiency in a yeast frataxin homologue deficient strain. FEBS Letters. 1999 ; 456: 281-284 (Pubitemid 29352308)
34. Rotig A, de Lonlay P, Chretien D, et al. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich's ataxia. Nat Genet. 1997 ; 17: 215-217
35. Bradley JL, Blake JC, Chamberlain S, et al. Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia. Hum Mol Genet. 2000 ; 9: 275-282 (Pubitemid 30052751)
36. Lodi R, Cooper JM, Bradley JL, et al. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc Nat Acad Sci USA. 1999 ; 96: 11492-11495 (Pubitemid 29487408)
37. Lodi R, Hart PE, Rajagopalan B, et al. Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia. Ann Neurol. 2001 ; 49: 590-596 (Pubitemid 32429786)
38. Lynch DR, Lech G, Farmer JM, et al. Near-infrared muscle spectroscopy in patients with Friedreich's ataxia. Muscle Nerve. 2002 ; 25: 664-673 (Pubitemid 34462605)
39. Schulz JB, Dehmer T, Schols L, et al. Oxidative stress in patients with Friedreich ataxia. Neurology. 2000 ; 55: 1719-1721
40. Emond M, Lepage G, Vanasse M, Pandolfo M. Increased levels of plasma malondialdehyde in Friedreich ataxia. Neurology. 2000 ; 55: 1752-1753
41. Li K, Besse EK, Ha D, et al. Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia. Hum Mol Genet. 2008 ; 17: 2265-2273
42. Kakhlon O, Manning H, Breuer W, et al. Cell functions impaired by frataxin deficiency are restored by drug-mediated iron relocation. Blood. 2008 ; 112: 5219-5227
43. Richardson DR, Mouralian C, Ponka P, Becker E. Development of potential iron chelators for the treatment of Friedreich's ataxia: ligands that mobilize mitochondrial iron. Biochim Biophys Acta. 2001 ; 1536: 133-140 (Pubitemid 32530812)
44. Richardson DR. Friedreich's ataxia: iron chelators that target the mitochondrion as a therapeutic strategy?. Expert Opin Investig Drugs. 2003 ; 12: 235-245 (Pubitemid 36204602)
45. Voncken M, Ioannou P, Delatycki MB. Friedreich ataxia-update on pathogenesis and possible therapies. Neurogenetics. 2004 ; 5: 1-8 (Pubitemid 38297467)
46. Boddaert N, Le Quan Sang KH, Rotig A, et al. Selective iron chelation in Friedreich ataxia. Biological and clinical implications. Blood. 2007 ; 110: 401-408 (Pubitemid 47026862)
47. Waldvogel D, van Gelderen P, Hallett M. Increased iron in the dentate nucleus of patients with Friedreich's ataxia. Ann Neurol. 1999 ; 46: 123-125 (Pubitemid 29314392)
48. Koeppen AH, Michael SC, Knutson MD, et al. The dentate nucleus in Friedreich's ataxia: the role of iron-responsive proteins. Acta Neuropathol (Berl). 2007 ; 114: 163-173 (Pubitemid 47103527)
49. Velasco-Sanchez D, Aracil A, Montero R, et al. Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia. Cerebellum. 2011 ; 10: 1-8
50. Armstrong JS, Khdour O, Hecht SM. Does oxidative stress contribute to the pathology of Friedreich's ataxia? A radical question. Faseb J. 2010 ; 24: 2152-2163
51. Horton AA, Fairhurst S. Lipid peroxidation and mechanisms of toxicity. CRC Crit Rev Toxicol. 1987 ; 18: 27-79 (Pubitemid 17130738)
52. Sugiyama Y, Fujita T, Matsumoto M, et al. Effects of idebenone (CV-2619) and its metabolites on respiratory activity and lipid peroxidation in brain mitochondria from rats and dogs. J Pharmacobiodyn. 1985 ; 8: 1006-1017 (Pubitemid 16190424)
53. Hausse AO, Aggoun Y, Bonnet D, et al. Idebenone and reduced cardiac hypertrophy in Friedreich's ataxia. Heart. 2002 ; 87: 346-349 (Pubitemid 34270947)
54. Mariotti C, Solari A, Torta D, Marano L, et al. Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology. 2003 ; 60: 1676-1679 (Pubitemid 36618100)
55. Buyse G, Mertens L, Di Salvo G, et al. Idebenone treatment in Friedreich's ataxia: neurological, cardiac, and biochemical monitoring. Neurology. 2003 ; 60: 1679-1681 (Pubitemid 36618101)
56. Di Prospero NA, Sumner CJ, Penzak SR, et al. Safety, tolerability, and pharmacokinetics of high-dose idebenone in patients with Friedreich ataxia. Arch Neurol. 2007 ; 64: 803-808 (Pubitemid 46919834)
57. Lynch DR, Perlman SL, Meier T. A phase 3, double-blind, placebo-controlled trial of idebenone in Friedreich ataxia. Arch Neurol. 2010 ; 67: 941-947
58. Meier T.,Perlman S.L.,Rummey C .Assessment of neurological efficacy of idebenone in pediatric patients with Friedreich's ataxia: Data from a 6-month controlled study followed by a 12-month open-label extension study