A gene expression phenotype in lymphocytes from friedreich ataxia patients

Annals of Neurology

Volumn 70, Issue 5, 2011, Pages 790-804

  Coppola, Giovanni ^a   Burnett, Ryan ^b,g   Perlman, Susan ^a   Versano, Revital ^a   Gao, Fuying ^a   Plasterer, Heather ^c   Rai, Myriam ^d   Saccá, Francesco ^e   Filla, Alessandro ^e   Lynch, David R ^f   Rusche, James R ^c   Gottesfeld, Joel M ^b   Pandolfo, Massimo ^d   Geschwind, Daniel H ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b SCRIPPS RESEARCH INSTITUTE   (United States)

^c REPLIGEN CORPORATION   (United States)

^d ERASME HOSPITAL   (Belgium)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^g Tocagen Inc   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FRATAXIN; HISTONE DEACETYLASE INHIBITOR;

ARTICLE; CELL CYCLE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA REPAIR; DRUG EFFICACY; FRIEDREICH ATAXIA; GENE EXPRESSION PROFILING; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; IN VITRO STUDY; LIPID METABOLISM; LYMPHOCYTE; MICROARRAY ANALYSIS; MITOCHONDRION; PATHOPHYSIOLOGY; PERIPHERAL BLOOD MONONUCLEAR CELL; PHENOTYPE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION;

ADULT; CELL CULTURE TECHNIQUES; FEMALE; FRIEDREICH ATAXIA; GENE EXPRESSION; HUMANS; IRON-BINDING PROTEINS; LEUKOCYTES, MONONUCLEAR; MALE; PHENOTYPE; REAL-TIME POLYMERASE CHAIN REACTION;

EID: 83255193054     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.22526     Document Type: Article

References (23)

1. Pandolfo M,. Friedreich ataxia. Arch Neurol 2008; 65: 1296-1303.
2. 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.
3. 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.
4. Saveliev A, Everett C, Sharpe T, et al. DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing. Nature 2003; 422: 909-913.
5. Festenstein R,. Breaking the silence in Friedreich's ataxia. Nat Chem Biol 2006; 2: 512-513.
6. Burnett R, Melander C, Puckett JW, et al. DNA sequence-specific polyamides alleviate transcription inhibition associated with long GAA.TTC repeats in Friedreich's ataxia. Proc Natl Acad Sci U S A 2006; 103: 11497-11502.
7. Boesch S, Sturm B, Hering S, et al. Friedreich's ataxia: clinical pilot trial with recombinant human erythropoietin. Ann Neurol 2007; 62: 521-524.
8. 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.
9. Marmolino D, Acquaviva F, Pinelli M, et al. PPAR-gamma agonist Azelaoyl PAF increases frataxin protein and mRNA expression: new implications for the Friedreich's ataxia therapy. Cerebellum 2009; 8: 98-103.
10. Rai M, Soragni E, Jenssen K, et al. HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. PLoS ONE 2008; 3: e1958.
11. Rai M, Soragni E, Chou CJ, et al. Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model. PLoS One 2010; 5: e8825.
12. 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.
13. Coppola G, Choi SH, Santos MM, et al. Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration. Neurobiol Dis 2006; 22: 302-311.
14. Seznec H, Simon D, Bouton C, et al. Friedreich ataxia: the oxidative stress paradox. Hum Mol Genet 2005; 14: 463-474.
15. Pomplun D, Voigt A, Schulz TJ, et al. Reduced expression of mitochondrial frataxin in mice exacerbates diet-induced obesity. Proc Natl Acad Sci U S A 2007; 104: 6377-6381.
16. Tan G, Napoli E, Taroni F, Cortopassi G,. Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells. Hum Mol Genet 2003; 12: 1699-1711.
17. Haugen AC, Di Prospero NA, Parker JS, et al. Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: cellular model of pathology. PLoS Genet 2010; 6: e1000812.
18. Thierbach R, Drewes G, Fusser M, et al. The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals. Biochem J 2010; 432: 165-172.
19. Harris JL, Jakob B, Taucher-Scholz G, et al. Aprataxin, poly-ADP ribose polymerase 1 (PARP-1) and apurinic endonuclease 1 (APE1) function together to protect the genome against oxidative damage. Hum Mol Genet 2009; 18: 4102-4117.
20. Thomas EA, Coppola G, Desplats PA, et al. The HDAC inhibitor 4b ameliorates the disease phenotype and transcriptional abnormalities in Huntington's disease transgenic mice. Proc Natl Acad Sci U S A 2008; 105: 15564-15569.
21. Perrin RJ, Fagan AM, Holtzman DM,. Multimodal techniques for diagnosis and prognosis of Alzheimer's disease. Nature 2009; 461: 916-922.
22. Watts JA, Morley M, Burdick JT, et al. Gene expression phenotype in heterozygous carriers of ataxia telangiectasia. Am J Hum Genet 2002; 71: 791-800.
23. Ristow M, Giannakidou E, Hebinck J, et al. An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene. Diabetes 1998; 47: 851-854.