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Pediatric Cardiology
Erschienen in: Pediatric Cardiology 3/2011

01.03.2011 | Riley Symposium

Cardiomyopathy of Friedreich’s Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development

verfasst von: R. Mark Payne, P. Melanie Pride, Clifford M. Babbey

Erschienen in: Pediatric Cardiology | Ausgabe 3/2011

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Abstract

Friedreich’s ataxia is a multisystem disorder of mitochondrial function affecting primarily the heart and brain. Patients experience a severe cardiomyopathy that can progress to heart failure and death. Although the gene defect is known, the precise function of the deficient mitochondrial protein, frataxin, is not known and limits therapeutic development. Animal models have been valuable for understanding the basic events of this disease. A significant need exists to focus greater attention on the heart disease in Friedreich’s ataxia, to understand its long-term outcome, and to develop new therapeutic strategies using existing medications and approaches. This review discusses some key features of the cardiomyopathy in Friedreich’s ataxia and potential therapeutic developments.
Literatur
1.
Alboliras ET, Shub C, Gomez MR, Edwards WD, Hagler DJ, Reeder GS, Seward JB, Tajik AJ (1986) Spectrum of cardiac involvement in Friedreich’s ataxia: clinical, electrocardiographic, and echocardiographic observations. Am J Cardiol 58:518–524PubMedCrossRef
2.
Al-Mahdawi S, Pinto RM, Ismail O, Varshney D, Lymperi S, Sandi C, Trabzuni D, Pook M (2008) The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum Mol Genet 17:735–746PubMedCrossRef
3.
Begley DJ (1996) The blood–brain barrier: principles for targeting peptides and drugs to the central nervous system. J Pharm Pharmacol 48:136–146PubMedCrossRef
4.
Boddaert N, Le Quan Sang KH, Rotig A, Leroy-Willig A, Gallet S, Brunelle F, Sidi D, Thalabard JC, Munnich A, Cabantchik ZI (2007) Selective iron chelation in Friedreich ataxia: biologic and clinical implications. Blood 110:401–408PubMedCrossRef
5.
Brautigam CA, Chuang JL, Tomchick DR, Machius M, Chuang DT (2005) Crystal structure of human dihydrolipoamide dehydrogenase: NAD+/NADH binding and the structural basis of disease-causing mutations. J Mol Biol 350:543–552PubMedCrossRef
6.
Bunse M, Bit-Avragim N, Riefflin A, Perrot A, Schmidt O, Kreuz FR, Dietz R, Jung WI, Osterziel KJ (2003) Cardiac energetics correlates to myocardial hypertrophy in Friedreich’s ataxia. Ann Neurol 53:121–123PubMedCrossRef
7.
Cao G, Pei W, Ge H, Liang Q, Luo Y, Sharp FR, Lu A, Ran R, Graham SH, Chen J (2002) In vivo delivery of a bcl-xl fusion protein containing the TAT protein transduction domain protects against ischemic brain injury and neuronal apoptosis. J Neurosci 22:5423–5431PubMed
8.
Casazza F, Morpurgo M (1996) The varying evolution of Friedreich’s ataxia cardiomyopathy. Am J Cardiol 77:895–898PubMedCrossRef
9.
Cavadini P, Adamec J, Taroni F, Gakh O, Isaya G (2000) Two-step processing of human frataxin by mitochondrial processing peptidase: precursor and intermediate forms are cleaved at different rates. J Biol Chem 275:41469–41475PubMedCrossRef
10.
Chakrapani A, Vellodi A, Robinson P, Jones S, Wraith JE (2010) Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience. J Inherit Metab Dis 33:747–750PubMedCrossRef
11.
Child JS, Perloff JK, Bach PM, Wolfe AD, Perlman S, Kark RA (1986) Cardiac involvement in Friedreich’s ataxia: a clinical study of 75 patients. J Am Coll Cardiol 7:1370–1378PubMedCrossRef
12.
Condo I, Ventura N, Malisan F, Rufini A, Tomassini B, Testi R (2007) In vivo maturation of human frataxin. Hum Mol Genet 16:1534–1540PubMedCrossRef
13.
Cossee M, Puccio H, Gansmuller A, Koutnikova H, Dierich A, LeMeur M, Fischbeck K, Dolle P, Koenig M (2000) Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. Hum Mol Genet 9:1219–1226PubMedCrossRef
14.
De Biase I, Rasmussen A, Endres D, Al-Mahdawi S, Monticelli A, Cocozza S, Pook M, Bidichandani SI (2007) Progressive GAA expansions in dorsal root ganglia of Friedreich’s ataxia patients. Ann Neurol 61:55–60PubMedCrossRef
15.
Del Gaizo Moore V, Payne RM (2004) Transactivator of transcription fusion protein transduction causes membrane inversion. J Biol Chem 279:32541–32544PubMedCrossRef
16.
Del Gaizo V, Payne RM (2003) A novel TAT-mitochondrial signal sequence fusion protein is processed, stays in mitochondria, and crosses the placenta. Mol Ther 7:720–730PubMedCrossRef
17.
Del Gaizo-Moore V, MacKenzie JA, Payne RM (2003) Targeting proteins to mitochondria using TAT. Mol Genet Metab 80:170–180CrossRef
18.
Drin G, Cottin S, Blanc E, Rees AR, Temsamani J (2003) Studies on the internalization mechanism of cationic cell-penetrating peptides. J Biol Chem 278:31192–31201PubMedCrossRef
19.
Dutka DP, Donnelly JE, Palka P, Lange A, Nunez DJ, Nihoyannopoulos P (2000) Echocardiographic characterization of cardiomyopathy in Friedreich’s ataxia with tissue Doppler echocardiographically derived myocardial velocity gradients. Circulation 102:1276–1282PubMed
20.
Epplen C, Epplen JT, Frank G, Miterski B, Santos EJ, Schols L (1997) Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene. Hum Genet 99:834–836PubMedCrossRef
21.
Filla A, De Michele G, Marconi R, Bucci L, Carillo C, Castellano AE, Iorio L, Kniahynicki C, Rossi F, Campanella G (1992) Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy. J Neurol 239:351–353PubMedCrossRef
22.
Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S (1996) The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 59:554–560PubMed
23.
Gacy AM, Goellner GM, Spiro C, Chen X, Gupta G, Bradbury EM, Dyer RB, Mikesell MJ, Yao JZ, Johnson AJ, Richter A, Melancon SB, McMurray CT (1998) GAA instability in Friedreich’s ataxia shares a common DNA-directed and intraallelic mechanism with other trinucleotide diseases. Mol Cell 1:583–593PubMedCrossRef
24.
Gaume B, Klaus C, Ungermann C, Guiard B, Neupert W, Brunner M (1998) Unfolding of preproteins upon import into mitochondria. EMBO J 17:6497–6507PubMedCrossRef
25.
Gillingham MB, Scott B, Elliott D, Harding CO (2006) Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. Mol Genet Metab 89:58–63PubMedCrossRef
26.
27.
Gustafsson AB, Sayen MR, Williams SD, Crow MT, Gottlieb RA (2002) TAT protein transduction into isolated perfused hearts: TAT-apoptosis repressor with caspase recruitment domain is cardioprotective. Circulation 106:735–739PubMed
28.
Gustafsson AB, Gottlieb RA, Granville DJ (2005) TAT-mediated protein transduction: delivering biologically active proteins to the heart. Methods Mol Med 112:81–90PubMed
29.
Haas RH (2007) The evidence basis for coenzyme Q therapy in oxidative phosphorylation disease. Mitochondrion 7(Suppl):S136–S145PubMedCrossRef
30.
Hanley A, Corrigan R, Mohammad S, MacMahon B (2010) Friedreich’s ataxia cardiomyopathy: case based discussion and management issues. Ir Med J 103:117–118PubMed
31.
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 104:589–620PubMedCrossRef
32.
Hart PE, Lodi R, Rajagopalan B, Bradley JL, Crilley JG, Turner C, Blamire AM, Manners D, Styles P, Schapira AH, Cooper JM (2005) Antioxidant treatment of patients with Friedreich ataxia: four-year follow-up. Arch Neurol 62:621–626PubMedCrossRef
33.
Hawley RJ, Gottdiener JS (1986) Five-year follow-up of Friedreich’s ataxia cardiomyopathy. Arch Intern Med 146:483–488PubMedCrossRef
34.
Herman D, Jenssen K, Burnett R, Soragni E, Perlman SL, Gottesfeld JM (2006) Histone deacetylase inhibitors reverse gene silencing in Friedreich’s ataxia. Nat Chem Biol 2:551–558PubMedCrossRef
35.
36.
Huang ML, Becker EM, Whitnall M, Rahmanto YS, Ponka P, Richardson DR (2009) Elucidation of the mechanism of mitochondrial iron loading in Friedreich’s ataxia by analysis of a mouse mutant. Proc Natl Acad Sci USA 106:16381–16386PubMedCrossRef
37.
Isaya G (2007) Ironing out a therapy for Friedreich ataxia. Blood 110:1–2CrossRef
38.
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 17:1972–1974PubMed
39.
Jensen KD, Nori A, Tijerina M, Kopeckova P, Kopecek J (2003) Cytoplasmic delivery and nuclear targeting of synthetic macromolecules. J Control Release 87:89–105PubMedCrossRef
40.
Kearney M, Orrell RW, Fahey M, Pandolfo M (2009) Antioxidants and other pharmacological treatments for Friedreich ataxia. Cochrane Database Syst Rev: CD007791
41.
Kipps A, Alexander M, Colan SD, Gauvreau K, Smoot L, Crawford L, Darras BT, Blume ED (2009) The longitudinal course of cardiomyopathy in Friedreich’s ataxia during childhood. Pediatr Cardiol 30:306–310PubMedCrossRef
42.
Kosutic J, Zamurovic D (2005) High-dose beta-blocker hypertrophic cardiomyopathy therapy in a patient with Friedreich ataxia. Pediatr Cardiol 26:727–730PubMedCrossRef
43.
Leonard H, Forsyth R (2001) Friedreich’s ataxia presenting after cardiac transplantation. Arch Dis Child 84:167–168PubMedCrossRef
44.
Levin VA (1980) Relationship of octanol/water partition coefficient and molecular weight to rat brain capillary permeability. J Med Chem 23:682–684PubMedCrossRef
45.
Li K, Besse EK, Ha D, Kovtunovych G, Rouault TA (2008) Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia. Hum Mol Genet 17:2265–2273PubMedCrossRef
46.
Lim F, Palomo GM, Mauritz C, Gimenez-Cassina A, Illana B, Wandosell F, Diaz-Nido J (2007) Functional recovery in a Friedreich’s ataxia mouse model by frataxin gene transfer using an HSV-1 amplicon vector. Mol Ther 15:1072–1078PubMed
47.
Lodi R, Cooper JM, Bradley JL, Manners D, Styles P, Taylor DJ, Schapira AH (1999) Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc Natl Acad Sci USA 96:11492–11495PubMedCrossRef
48.
Lodi R, Rajagopalan B, Blamire AM, Cooper JM, Davies CH, Bradley JL, Styles P, Schapira AH (2001) Cardiac energetics are abnormal in Friedreich ataxia patients in the absence of cardiac dysfunction and hypertrophy: an in vivo 31P magnetic resonance spectroscopy study. Cardiovasc Res 52:111–119PubMedCrossRef
49.
Lynch DR, Perlman SL, Meier T (2010) A phase 3, double-blind, placebo-controlled trial of idebenone in Friedreich ataxia. Arch Neurol 67:941–947PubMedCrossRef
50.
Malo S, Latour Y, Cote M, Geoffroy G, Lemieux B, Barbeau A (1976) Electrocardiographic and vectocardiographic findings in Friedreich’s ataxia: the Canadian journal of neurological sciences. J Can Sci Neurol 3:323–328
51.
Mariotti C, Solari A, Torta D, Marano L, Fiorentini C, Di DS (2003) Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology 60:1676–1679PubMed
52.
Michael S, Petrocine SV, Qian J, Lamarche JB, Knutson MD, Garrick MD, Koeppen AH (2006) Iron and iron-responsive proteins in the cardiomyopathy of Friedreich’s ataxia. Cerebellum 5:257–267PubMedCrossRef
53.
Miranda CJ, Santos MM, Ohshima K, Smith J, Li L, Bunting M, Cossee M, Koenig M, Sequeiros J, Kaplan J, Pandolfo M (2002) Frataxin knockin mouse. FEBS Lett 512:291–297PubMedCrossRef
54.
Mitchell DJ, Kim DT, Steinman L, Fathman CG, Rothbard JB (2000) Polyarginine enters cells more efficiently than other polycationic homopolymers. J Pept Res 56:318–325PubMedCrossRef
55.
Montermini L, Richter A, Morgan K, Justice CM, Julien D, Castellotti B, Mercier J, Poirier J, Capozzoli F, Bouchard JP, Lemieux B, Mathieu J, Vanasse M, Seni MH, Graham G, Andermann F, Andermann E, Melancon SB, Keats BJ, Di Donato S, Pandolfo M (1997) Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 41:675–682PubMedCrossRef
56.
Palagi B, Picozzi R, Casazza F, Possa M, Magri G, Zoccarato O, Graziano E, Ferrari F, Morpurgo M (1988) Biventricular function in Friedreich’s ataxia: a radionuclide angiographic study. Br Heart J 59:692–695PubMedCrossRef
57.
58.
Patel PI, Isaya G (2001) Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency. Am J Hum Genet 69:15–24PubMedCrossRef
59.
Pineda M, Arpa J, Montero R, Aracil A, Dominguez F, Galvan M, Mas A, Martorell L, Sierra C, Brandi N, Garcia-Arumi E, Rissech M, Velasco D, Costa JA, Artuch R (2008) Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up. Eur J Paediatr Neurol 12:470–475PubMedCrossRef
60.
Pook MA, Al Mahdawi S, Carroll CJ, Cossee M, Puccio H, Lawrence L, Clark P, Lowrie MB, Bradley JL, Cooper JM, Koenig M, Chamberlain S (2001) Rescue of the Friedreich’s ataxia knockout mouse by human YAC transgenesis. Neurogenetics 3:185–193PubMed
61.
Puccio H, Koenig M (2000) Recent advances in the molecular pathogenesis of Friedreich ataxia. Hum Mol Genet 9:887–892PubMedCrossRef
62.
Puccio H, Simon D, Cossee M, Criqui-Filipe P, Tiziano F, Melki J, Hindelang C, Matyas R, Rustin P, Koenig M (2001) Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect, and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. Nat Genet 27:181–186PubMedCrossRef
63.
Rai M, Soragni E, Jenssen K, Burnett R, Herman D, Coppola G, Geschwind DH, Gottesfeld JM, Pandolfo M (2008) HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. PLoS One 3:e1958PubMedCrossRef
64.
Rajagopalan B, Francis JM, Cooke F, Korlipara LV, Blamire AM, Schapira AH, Madan J, Neubauer S, Cooper JM (2010) Analysis of the factors influencing the cardiac phenotype in Friedreich’s ataxia. Mov Disord 25:846–852PubMedCrossRef
65.
Raman SV, Phatak K, Hoyle JC, Pennell ML, McCarthy B, Tran T, Prior TW, Olesik JW, Lutton A, Rankin C, Kissel JT, Al-Dahhak R (2010) Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome. Eur Heart J (in press)
66.
Rapoport M, Lorberboum-Galski H (2009) TAT-based drug delivery system: new directions in protein delivery for new hopes? Expert Opin Drug Deliv 6:453–463PubMedCrossRef
67.
Rapoport M, Saada A, Elpeleg O, Lorberboum-Galski H (2008) TAT-mediated delivery of LAD restores pyruvate dehydrogenase complex activity in the mitochondria of patients with LAD deficiency. Mol Ther 16:691–697PubMedCrossRef
68.
Rayapureddi JP, Tomamichel WJ, Walton ST, Payne RM (2010) TAT fusion protein transduction into isolated mitochondria is accelerated by sodium channel inhibitors. Biochemistry (in press)
69.
Reddy PL, Grewal RP (2007) Friedreich’s ataxia: a clinical and genetic analysis. Clin Neurol Neurosurg 109:200–202PubMedCrossRef
70.
Richardson DR (2003) Friedreich’s ataxia: iron chelators that target the mitochondrion as a therapeutic strategy? Expert Opin Investig Drugs 12:235–245PubMedCrossRef
71.
Richardson DR, Huang ML, Whitnall M, Becker EM, Ponka P, Rahmanto YS (2010) The ins and outs of mitochondrial iron-loading: the metabolic defect in Friedreich’s ataxia. J Mol Med 88:323–329PubMedCrossRef
72.
Romeo G, Menozzi P, Ferlini A, Fadda S, Di Donato S, Uziel G, Lucci B, Capodaglio L, Filla A, Campanella G (1983) Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages. Am J Hum Genet 35:523–529PubMed
73.
Rotig A, de LP, Chretien D, Foury F, Koenig M, Sidi D, Munnich A, Rustin P (1997) Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet 17:215–217PubMedCrossRef
74.
Rustin P, Rotig A, Munnich A, Sidi D (2002) Heart hypertrophy and function are improved by idebenone in Friedreich’s ataxia. Free Radic Res 36:467–469PubMedCrossRef
75.
Ryser HJ, Drummond I, Shen WC (1982) The cellular uptake of horseradish peroxidase and its poly(lysine) conjugate by cultured fibroblasts is qualitatively similar despite a 900-fold difference in rate. J Cell Physiol 113:167–178PubMedCrossRef
76.
Sakamoto N, Ohshima K, Montermini L, Pandolfo M, Wells RD (2001) Sticky DNA, a self-associated complex formed at long GAA*TTC repeats in intron 1 of the frataxin gene, inhibits transcription. J Biol Chem 276:27171–27177PubMedCrossRef
77.
Schmucker S, Argentini M, Carelle-Calmels N, Martelli A, Puccio H (2008) The in vivo mitochondrial two-step maturation of human frataxin. Hum Mol Genet 17:3521–3531PubMedCrossRef
78.
Schols L, Amoiridis G, Przuntek H, Frank G, Epplen JT, Epplen C (1997) Friedreich’s ataxia: revision of the phenotype according to molecular genetics. Brain 120:2131–2140PubMedCrossRef
79.
Schwarze SR, Ho A, Vocero-Akbani A, Dowdy SF (1999) In vivo protein transduction: delivery of a biologically active protein into the mouse. Science 285:1569–1572PubMedCrossRef
80.
Sedlak TL, Chandavimol M, Straatman L (2004) Cardiac transplantation: a temporary solution for Friedreich’s ataxia-induced dilated cardiomyopathy. J Heart Lung Transplant 23:1304–1306PubMedCrossRef
81.
Segovia J, Alonso-Pulpon L, Burgos R, Silva L, Serrano S, Castedo E, Jimenez J, Fuentes R, Canas A, Ugarte J (2001) Heart transplantation in Friedreich’s ataxia and other neuromuscular diseases. J Heart Lung Transplant 20:169PubMedCrossRef
82.
Shaddy RE, Boucek MM, Hsu DT, Boucek RJ, Canter CE, Mahony L, Ross RD, Pahl E, Blume ED, Dodd DA, Rosenthal DN, Burr J, LaSalle B, Holubkov R, Lukas MA, Tani LY (2007) Carvedilol for children and adolescents with heart failure: a randomized controlled trial. JAMA 298:1171–1179PubMedCrossRef
83.
Shan Y, Napoli E, Cortopassi G (2007) Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones. Hum Mol Genet 16:929–941PubMedCrossRef
84.
85.
Stemmler TL, Lesuisse E, Pain D, Dancis A (2010) Frataxin and mitochondrial FeS cluster biogenesis. J Biol Chem 285:26737–26743PubMedCrossRef
86.
Toro A, Grunebaum E (2006) TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice. J Clin Invest 116:2717–2726PubMedCrossRef
87.
Velasco-Sanchez D, Aracil A, Montero R, Mas A, Jimenez L, O’Callaghan M, Tondo M, Capdevila A, Blanch J, Artuch R, Pineda M (2010) Combined therapy with idebenone and deferiprone in patients with Friedreich’s ataxia. Cerebellum 10:1–8CrossRef
88.
89.
Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P (2006) Newborn screening: toward a uniform screening panel and system. Genet Med 8:1S–11SCrossRef
90.
Whitnall M, Rahmanto YS, Sutak R, Xu X, Becker EM, Mikhael MR, Ponka P, Richardson DR (2008) The MCK mouse heart model of Friedreich’s ataxia: alterations in iron-regulated proteins and cardiac hypertrophy are limited by iron chelation. Proc Natl Acad Sci USA 105:9757–9762PubMedCrossRef
91.
Yoon T, Cowan JA (2004) Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis. J Biol Chem 279:25943–25946PubMedCrossRef
92.
Zhang Y, Lyver ER, Knight SA, Pain D, Lesuisse E, Dancis A (2006) Mrs3p, Mrs4p, and frataxin provide iron for Fe-S cluster synthesis in mitochondria. J Biol Chem 281:22493–22502PubMedCrossRef
93.
Zhang XY, Dinh A, Cronin J, Li SC, Reiser J (2008) Cellular uptake and lysosomal delivery of galactocerebrosidase tagged with the HIV TAT protein transduction domain. J Neurochem 104:1055–1064PubMedCrossRef
Metadaten
Titel
Cardiomyopathy of Friedreich’s Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development
verfasst von
R. Mark Payne
P. Melanie Pride
Clifford M. Babbey
Publikationsdatum
01.03.2011
Verlag
Springer-Verlag
Erschienen in
Pediatric Cardiology / Ausgabe 3/2011
Print ISSN: 0172-0643
Elektronische ISSN: 1432-1971
DOI
https://doi.org/10.1007/s00246-011-9943-6

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