Evidence for a role of frataxin in pancreatic islets isolated from multi-organ donors with and without type 2 diabetes mellitus

Hormone and Metabolic Research

Volumn 44, Issue 6, 2012, Pages 471-475

  Del Guerra, S ^a   D'Aleo, V ^a   Gualtierotti, G ^a   Pandolfi, R ^a   Boggi, U ^a   Vistoli, F ^a   Barnini, S ^a   Filipponi, F ^a   Del Prato, S ^a   Lupi, R ^a  

^a UNIVERSITY HOSPITAL OF PISA   (Italy)

Author keywords

cell; frataxin; human pancreatic islet; oxidative stress; type 2 diabetes

Indexed keywords

3 NITROTYROSINE; FRATAXIN; GLUCOSE; SMALL INTERFERING RNA;

ADULT; AGED; ARTICLE; CELL ISOLATION; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; FEMALE; GENE EXPRESSION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; HUMAN TISSUE; INSULIN RELEASE; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; ORGAN DONOR; OXIDATIVE STRESS; PANCREAS ISLET; PRIORITY JOURNAL; PROTEIN EXPRESSION; QUALITATIVE ANALYSIS; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION;

DIABETES MELLITUS, TYPE 2; FEMALE; GENE EXPRESSION REGULATION; HUMANS; IRON-BINDING PROTEINS; ISLETS OF LANGERHANS; MALE; MIDDLE AGED; REGRESSION ANALYSIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; RNA, SMALL INTERFERING; TISSUE DONORS; TYROSINE;

EID: 84861667910     PISSN: 00185043     EISSN: 14394286     Source Type: Journal    
DOI: 10.1055/s-0032-1301920     Document Type: Article

References (35)

1. Pandolfo M. Iron metabolism and mitochondrial abnormalities in Friedreich ataxia. Blood Cells Mol Dis: 2002; 29 536 547
2. Tan G, Chen L S, Lonnerdal B, Gellera C, Taroni F A, Cortopassi G A. Frataxin expression rescues mitochondrial dysfunctions in FRDA cells. Hum Mol Genet: 2001; 10 2099 2107 (Pubitemid 32998822)
3. Cossée M, Puccio H, Gansmuller A, Koutnikova H, Dierich A, LeMeur M, Fischbeck K, Dollé P, Koenig M. Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation. Hum Mol Genet: 2000; 9 1219 1226 (Pubitemid 30248608)
4. Lee D W, Andersen J K, Kaur D. Iron dysregulation and neurodegeneration: the molecular connection. Mol Interv: 2006; 6 89 97
5. Calabrese V, Lodi R, Tonon C, D'Agata V, Sapienza M, Scapagnini G, Mangiameli A, Pennisi G, Stella A M, Butterfield D A. Oxidative stress, mitochondrial dysfunction and cellular stress response in Friedreich's ataxia. J Neurol Sci: 2005; 233 145 162 (Pubitemid 40812334)
6. Schulz J B, Dehmer T, Schöls L, Mende H, Hardt C, Vorgerd M, Bürk K, Matson W, Dichgans J, Beal M F. Oxidative stress in patients with Friedreich ataxia. Neurology: 2000; 55 1719 1721
7. Gakh O, Park S, Liu G, Macomber L, Imlay J A, Ferreira G C, Isaya G. Mitochondrial iron detoxification is a primary function of FXN that limits oxidative damage and preserves cell longevity. Hum Mol Genet: 2006; 15 467 479 (Pubitemid 43159898)
8. Chantrel-Groussard K, Geromel V, Puccio H, Koenig M, Munnich A, Rötig A, Rustin P. Disabled early recruitment of antioxidant defenses in Friedreich's ataxia. Hum Mol Genet: 2001; 10 2061 2067 (Pubitemid 32998818)
9. Shoichet S A, Bäumer A T, Stamenkovic D, Sauer H, Pfeiffer A F, Kahn C R, Müller-Wieland D, Richter C, Ristow M. FXN promotes antioxidant defences in a thiol-dependent manner resulting in diminished malignant transformation in vitro. Hum Mol Genet: 2002; 11 815 821 (Pubitemid 34428649)
10. Finocchiaro G, Baio G, Micossi P, Pozza G, di Donato S. Glucose metabolism alterations in Friedreich's ataxia. Neurology: 1998; 38 1292 1296
11. Ristow M, Giannakidou E, Hebinck J, Busch K, Vorgerd M, Kotzka J, Knebel B, Mueller-Berghaus J, Epplen C, Pfeiffer A, Kahn C R, Doria A, Krone W, Mueller-Wieland D. An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene. Diabetes: 1998; 47 851 854 (Pubitemid 28201821)
12. Dupont S, Dubois D, Vionnet N, Boitard C, Caillat-Zucman S, Timsit J, Froguel P. No association between the Friedreich's ataxia gene and NIDDM in the French population. Diabetes: 1998; 47 1654 1656 (Pubitemid 28445357)
13. Dalgaard L T, Hansen T, Urhammer S A, Clausen J O, Eiberg H, Pedersen O. Intermediate expansions of a GAA repeat in the frataxin gene are not associated with type 2 diabetes or altered glucose-induced beta-cell function in Danish Caucasians. Diabetes: 1999; 48 914 917 (Pubitemid 29153095)
14. t Hart L M, Ruige J B, Dekker J M, Stehouwer C D, Maassen J A, Heine R. Altered beta-cell characteristics in impaired glucose tolerant carriers of a GAA trinucleotide repeat polymorphism in the frataxin gene. Diabetes: 1999; 48 924 926 (Pubitemid 29153098)
15. Holmkvist J, Almgren P, Parikh H, Zucchelli M, Kere J, Groop L, Lindgren C M. Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes. Eur J Hum Genet: 2005; 13 849 855 (Pubitemid 40946084)
16. Lynn S, Hattersley A T, McCarthy M I, Frayling T M, Turnbull D M, Walker M. Intermediate expansions of a X25/frataxin gene GAA repeat and type II diabetes: assessment using parent-offspring trios. Diabetologia: 2000; 43 384 385 (Pubitemid 30163483)
17. Robertson R P. Chronic oxidative stress as a central mechanism for glucose toxicity in pancreatic islet beta cells in diabetes. J Biol Chem: 2004; 279 42351e4
18. Tews D, Lehr S, Hartwig S, Osmers A, Paslack W, Eckel J. Anti-apoptotic action of exendin-4 in INS-1 beta cells: comparative protein pattern analysis of isolated mitochondria. Horm Metab Res: 2009; 41 294 301
19. Kawasaki Y, Harashima S, Sasaki M, Mukai E, Nakamura Y, Harada N, Toyoda K, Hamasaki A, Yamane S, Yamada C, Yamada Y, Seino Y, Inagaki N. Exendin-4 protects pancreatic beta cells from the cytotoxic effect of rapamycin by inhibiting JNK and p38 phosphorylation. Horm Metab Res: 2010; 42 311 317
20. Rolo A P, Palmeira C M. Diabetes and mitochondrial function: role of hyperglycemia and oxidative stress. Toxicol Appl Pharmacol: 2006; 212 167 178
21. Wu L, Nicholson W, Knobel S M, Steffner R J, May J M, Piston D W, Powers A C. Oxidative stress is a mediator of glucose toxicity in insulin-secreting pancreatic islet cell lines. J Biol Chem: 2004; 279 12126 1234
22. D'Aleo V, Del Guerra S, Martano M, Bonamassa B, Canistro D, Soleti A, Valgimigli L, Paolini M, Filipponi F, Boggi U, Del Prato S, Lupi R. The non-peptidyl low molecular weight radical scavenger IAC protects human pancreatic islets from lipotoxicity. Mol Cell Endocrinol: 2009; 309 63 66
23. Del Guerra S, Lupi R, D'Aleo V, Filipponi F, Boggi U, Marchetti P. Glucose transporter 2 gene polymorphisms and beta-cell function in isolated human pancreatic islets. Diabetes Metab: 2009; 35 155 156
24. Lupi R, Del Guerra S, Bugliani M, Boggi U, Mosca F, Torri S, Del Prato S, Marchetti P. The direct effects of the angiotensin-converting enzyme inhibitors, zofenoprilat and enalaprilat, on isolated human pancreatic islets. Eur J Endocrinol: 2006; 154 355 361
25. Lyssenko V, Lupi R, Marchetti P, Del Guerra S, Orho-Melander M, Almgren P, Sjögren M, Ling C, Eriksson K F, Lethagen A L, Mancarella R, Berglund G, Tuomi T, Nilsson P, Del Prato S, Groop L. Mechanisms by which common variants in the TCF7L2 gene increase risk of type 2 diabetes. J Clin Invest: 2007; 117 2155 2163 (Pubitemid 47219560)
26. Wilson R B. FXN and FXN deficiency in Friedreich's ataxia. J Neurol Sci: 2003; 207 103 105
27. Condò I, Ventura N, Malisan F, Tomassini B, Testi R. A pool of extra mitochondrial FXN that promotes cell survival. J Biol Chem: 2006; 281 16750 16756
28. Ristow M, Mulder H, Pomplun D, Schulz T J, Müller-Schmehl K, Krause A, Fex M, Puccio H, Müller J, Isken F, Spranger J, Müller-Wieland D, Magnuson M A, Möhlig M, Koenig M, Pfeiffer A F. FXN deficiency in pancreatic islets causes diabetes due to loss of beta cell mass. J Clin Invest: 2003; 112 527 534 (Pubitemid 38056337)
29. Pandolfo M. Frataxin deficiency and mitochondrial dysfunction. Mitochondrion: 2002; 2 87 93 (Pubitemid 35214600)
30. Runko A P, Griswold A J, Min K T. Overexpression of frataxin in the mitochondria increases resistance to oxidative stress and extends lifespan in Drosophila. FEBS Lett: 2008; 582 715 719
31. Ling C, Del Guerra S, Lupi R, Rönn T, Granhall C, Luthman H, Masiello P, Marchetti P, Groop L, Del Prato S. Epigenetic regulation of PPARGC1A in human type 2 diabetic islets and effect on insulin secretion. Diabetologia: 2008; 51 615 622
32. D'Adamo M, Perego L, Cardellini M, Marini M A, Frontoni S, Andreozzi F, Sciacqua A, Lauro D, Sbraccia P, Federici M, Paganelli M, Pontiroli A E, Lauro R, Perticone F, Folli F, Sesti G. The 866A/A genotype in the promoter of the human uncoupling protein 2 gene is associated with insulin resistance and increased risk of type 2 diabetes. Diabetes: 2004; 53 1905 1910 (Pubitemid 38857052)
33. Del Guerra S, Lupi R, Marselli L, Masini M, Bugliani M, Sbrana S, Torri S, Pollera M, Boggi U, Mosca F, Del Prato S, Marchetti P. Functional and molecular defects of pancreatic islets in human type 2 diabetes. Diabetes: 2005; 54 727 735 (Pubitemid 40322075)
34. Bonora E. Protection of pancreatic beta-cells: is it feasible? Nutr Metab Cardiovasc Dis: 2008; 18 74 83
35. Barroso I, Luan J, Sandhu M S, Franks P W, Crowley V, Schafer A J, O'Rahilly S, Wareham N J. Meta-analysis of the Gly482Ser variant in PPARGC1A in type 2 diabetes and related phenotypes. Diabetologia: 2006; 49 501 505 (Pubitemid 43277873)