Intracellular ROS level is increased in fibroblasts of triple a syndrome patients

Journal of Molecular Medicine

Volumn 88, Issue 12, 2010, Pages 1233-1242

  Kind, Barbara ^a   Koehler, Katrin ^a   Krumbholz, Manuela ^b   Landgraf, Dana ^a   Huebner, Angela ^a  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Fibroblasts; Mitochondria; Neurodegeneration; Reactive oxygen species; Triple A syndrome

Indexed keywords

ADENOSINE TRIPHOSPHATE; CATALASE; COPPER ZINC SUPEROXIDE DISMUTASE; GLUTATHIONE REDUCTASE; MANGANESE SUPEROXIDE DISMUTASE; REACTIVE OXYGEN METABOLITE;

ALLGROVE SYNDROME; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FEMALE; FIBROBLAST; HUMAN; HUMAN CELL; MALE; NERVE DEGENERATION; NUCLEOTIDE SEQUENCE; OXIDATIVE STRESS; PREMATURITY; PRESCHOOL CHILD; PROTEIN EXPRESSION; PROTEIN SYNTHESIS; SCHOOL CHILD;

ADRENAL INSUFFICIENCY; CATALASE; CELL PROLIFERATION; CHILD; CHILD, PRESCHOOL; ESOPHAGEAL ACHALASIA; FEMALE; FIBROBLASTS; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GLUTATHIONE PEROXIDASE; HUMANS; INFANT; INTRACELLULAR SPACE; MALE; MEMBRANE POTENTIAL, MITOCHONDRIAL; MODELS, BIOLOGICAL; PHENANTHRIDINES; REACTIVE OXYGEN SPECIES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RHODAMINES; SUPEROXIDE DISMUTASE;

EID: 78651285249     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-010-0661-y     Document Type: Article

References (35)

1. Allgrove J, Clayden GS, Grant DB, Macaulay JC (1978) Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1:1284-1286
2. Moore PS, Couch RM, Perry YS, Shuckett EP, Winter JS (1991) Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima. Clin Endocrinol 34:107-114
3. Dumić M, Radica A, Sabol Z, Plavsić V, Brkljacić L, Sarnavka V, Vuković J (1991) Adrenocorticotropic hormone insensitivity associated with autonomic nervous system disorders. Eur J Pediatr 150:696-699
4. Grant DB, Barnes ND, Dumic M, Ginalska-Malinowska M, Milla PJ, von Petrykowski W, Rowlatt RJ, Steendijk R, Wales JH, Werder E (1993) Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome. Arch Dis Child 68:779-782
5. Tullio-Pelet A, Salomon R, Hadj-Rabia S, Mugnier C, de Laet MH, Chaouachi B, Bakiri F, Brottier P, Cattolico L, Penet C et al (2000) Mutant WD-repeat protein in triple-A syndrome. Nat Genet 26:332-335
6. Handschug K, Sperling S, Yoon SJ, Hennig S, Clark AJ, Huebner A (2001) Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 10:283-290
7. Cronshaw JM, Krutchinsky AN, Zhang W, Chait BT, Matunis MJ (2002) Proteomic analysis of the mammalian nuclear pore complex. J Cell Biol 158:915-927
8. Cronshaw JM, Matunis MJ (2003) The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Proc Natl Acad Sci USA 100:5823-5827
9. Krumbholz M, Koehler K, Huebner A (2006) Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome-shedding light on an unexpected splice mutation. Biochem Cell Biol 84:243-249
10. Basel-Vanagaite L, Muncher L, Straussberg R, Pasmanik-Chor M, Yahav M, Rainshtein L, Walsh CA, Magal N, Taub E, Drasinover V et al (2006) Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Ann Neurol 60:214-222
11. Zhang X, Chen S, Yoo S, Chakrabarti S, Zhang T, Ke T, Oberti C, Yong SL, Fang F, Li L et al (2008) Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. Cell 135:1017-1027
12. Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM et al (2009) Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet 84:44-51
13. Hirano M, Furiya Y, Asai H, Yasui A, Ueno S (2006) ALADINI482S causes selective failure of nuclear protein import and hypersensitivity to oxidative stress in triple A syndrome. Proc Natl Acad Sci USA 103:2298-2303
14. Storr HL, Kind B, Parfitt DA, Chapple JP, Lorenz M, Koehler K, Huebner A, Clark AJ (2009) Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism. Mol Endocrinol 23:2086-2094
15. Kiriyama T, Hirano M, Asai H, Ikeda M, Furiya Y, Ueno S (2008) Restoration of nuclear-import failure caused by triple A syndrome and oxidative stress. Biochem Biophys Res Commun 374:631-634
16. Lin MT, Beal MF (2006) Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. Nature 443:787-795
17. Sas K, Robotka H, Toldi J, Vécsei L (2007) Mitochondria, metabolic disturbances, oxidative stress and the kynurenine system, with focus on neurodegenerative disorders. J Neurol Sci 257:221-239
18. Andréasson H, Gyllensten U, Allen M (2002) Real-time DNA quantification of nuclear and mitochondrial DNA in forensic analysis. Biotechniques 33:402-411
19. Jacobson J, Duchen MR, Heales SJ (2002) Intracellular distribution of the fluorescent dye nonyl acridine orange responds to the mitochondrial membrane potential: implications for assays of cardiolipin and mitochondrial mass. J Neurochem 82:224-233
20. Cossarizza A, Salvioli S (2001) Flow cytometric analysis of mitochondrial membrane potential using JC-1. Curr Protoc Cytom 9. 14
21. Manfredi G, Spinazzola A, Checcarelli N, Naini A (2001) Assay of mitochondrial ATP synthesis in animal cells. Methods Cell Biol 65:133-145
22. Feissner RF, Skalska J, Gaum WE, Sheu SS (2009) Crosstalk signaling between mitochondrial Ca2+ and ROS. Front Biosci 14:1197-1218
23. St-Pierre J, Buckingham JA, Roebuck SJ, Brand MD (2002) Topology of superoxide production from different sites in the mitochondrial electron transport chain. J Biol Chem 277:44784-44790
24. Koehler K, Brockmann K, Krumbholz M, Kind B, Bönnemann C, Gärtner J, Huebner A (2008) Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p. Leu430Phe. Eur J Hum Genet 16:1499-1506
25. Khelif K, De Laet MH, Chaouachi B, Segers V, Vanderwinden JM (2003) Achalasia of the cardia in Allgrove's (triple A) syndrome: histopathologic study of 10 cases. Am J Surg Pathol 27:667-672
26. Silver I, Erecinska M (1998) Oxygen and ion concentrations in normoxic and hypoxic brain cells. Adv Exp Med Biol 454:7-16
27. Kann O, Kovács R (2007) Mitochondria and neuronal activity. Am J Physiol Cell Physiol 292: C641-C657
28. Baron M, Kudin AP, Kunz WS (2007) Mitochondrial dysfunction in neurodegenerative disorders. Biochem Soc Trans 35:1228-1231
29. Hayflick L, Moorhead PS (1961) The serial cultivation of human diploid cell strains. Exp Cell Res 25:585-621
30. Toussaint O, Remacle J, Dierick JF, Pascal T, Frippiat C, Zdanov S, Magalhaes JP, Royer V, Chainiaux F (2002) From the Hayflick mosaic to the mosaics of ageing. Role of stress-induced premature senescence in human ageing. Int J Biochem Cell Biol 34:1415-1429
31. Lee HC, Yin PH, Chi CW, Wei YH (2002) Increase in mitochondrial mass in human fibroblasts under oxidative stress and during replicative cell senescence. J Biomed Sci 9:517-526
32. Lee HC, Wei YH (2007) Oxidative stress, mitochondrial DNA mutation, and apoptosis in aging. Exp Biol Med 232:592-606
33. Passos JF, Saretzki G, Ahmed S, Nelson G, Richter T, Peters H, Wappler I, Birket MJ, Harold G, Schaeuble K et al (2007) Mitochondrial dysfunction accounts for the stochastic heterogeneity in telomere-dependent senescence. PLoS Biol 5: e110
34. Tamm I, Kikuchi T, Wang E, Pfeffer LM (1984) Growth rate of control and beta-interferon-treated human fibroblast populations over the course of their in vitro life span. Cancer Res 44:2291-2296
35. Brown WM, George M Jr, Wilson AC (1979) Rapid evolution of animal mitochondrial DNA. Proc Natl Acad Sci USA 76:1967-1971