Plasma thiol status is altered in children with mitochondrial diseases

Scandinavian Journal of Clinical and Laboratory Investigation

Volumn 72, Issue 2, 2012, Pages 152-157

  Salmi, Heli ^a   Leonard, James V ^b   Rahman, Shamima ^b   Lapatto, Risto ^a  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Cysteine; Glutathione; Leigh syndrome; Mitochondrial; Oxidative stress

Indexed keywords

ANTICONVULSIVE AGENT; BACLOFEN; BICARBONATE; CYSTEINE; GLUCOSE 6 PHOSPHATE DEHYDROGENASE; GLUTATHIONE PEROXIDASE; GLUTATHIONE REDUCTASE; GLUTATHIONE TRANSFERASE; HYDROCORTISONE; RIBOFLAVIN;

ADOLESCENT; ADRENAL INSUFFICIENCY; ALPERS DISEASE; ARTICLE; ATAXIA; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ERYTHROCYTE; FEMALE; HUMAN; KEARNS SAYRE SYNDROME; LACTIC ACIDOSIS; LEIGH DISEASE; LIMIT OF DETECTION; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CYSTEINE; FEMALE; GLUCOSEPHOSPHATE DEHYDROGENASE; GLUTATHIONE; GLUTATHIONE PEROXIDASE; GLUTATHIONE REDUCTASE; GLUTATHIONE TRANSFERASE; HUMANS; MALE; MITOCHONDRIAL DISEASES; SULFHYDRYL COMPOUNDS;

EID: 84858376962     PISSN: 00365513     EISSN: 15027686     Source Type: Journal    
DOI: 10.3109/00365513.2011.646299     Document Type: Article

References (31)

1. Rahman S, Hanna MG. Diagnosis and therapy in neuro-muscular disorders: diagnosis and new treatment in mitochondrial disease. J Neurol Neurosurg Psychiat 2009;80:943-53.
2. DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med 2003;348:2656-68. (Pubitemid 36741594)
3. Debray FG, Lambert M, Mitchell GA. Disorders of mito-chondrial function. Curr Opin Pediatr 2008;20:471-82.
4. Shoffner JM. Oxidative phosphorylation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001. pp. 2125-63.
5. DiMauro S, Mancuso M. Mitochondrial diseases: therapeutic approaches. Biosci Rep 2007;27:125-37. (Pubitemid 46940941)
6. Chinnery P, Majamaa K, Turnbull D, Thorburn D. Treatment for mitochondrial disorders. Cochrane Database Syst Rev 2006; (1)(1):CD004426.
7. Chen Q, Vazquez EJ, Moghaddas S, Hoppel CL, Lesnefsky EJ. Production of reactive oxygen species by mitochondria: central role of complex III. J Biol Chem 2003;278: 36027-31. (Pubitemid 37139922)
8. Wallace DC. Mitochondrial diseases in man and mouse. Science 1999;283:1482-8.
9. Kirkinezos IG, Moraes CT. Reactive oxygen species and mitochondrial diseases. Semin Cell Dev Biol 2001;12: 449-57.
10. Wani AA, Rangrez AY, Kumar H, Bapat SA, Suresh CG, Barnabas S, Patole MS, Shouche YS. Analysis of reactive oxygen species and antioxidant defenses in complex I defi-cient patients revealed a specific increase in superoxide dis-mutase activity. Free Radic Res 2008;42:415-27. (Pubitemid 351935155)
11. Pitkanen S, Robinson BH. Mitochondrial complex I defi-ciency leads to increased production of superoxide radicals and induction of superoxide dismutase. J Clin Invest 1996;98:345-51. (Pubitemid 26255732)
12. Luo X, Pitkanen S, Kassovska-Bratinova S, Robinson BH, Lehotay DC. Excessive formation of hydroxyl radicals and aldehydic lipid peroxidation products in cultured skin fibro-blasts from patients with complex I deficiency. J Clin Invest 1997;99:2877-82. (Pubitemid 27278663)
13. Raimundo N, Ahtinen J, Fumic K, Baric I, Remes AM, Renkonen R, Lapatto R, Suomalainen A. Differential metabolic consequences of fumarate hydratase and respiratory chain defects. Biochim Biophys Acta 2008;1782:287-94.
14. Lash LH. Mitochondrial glutathione transport: physiological, pathological and toxicological implications. Chem Biol Interact 2006;163:54-67. (Pubitemid 44572210)
15. Deneke SM, Fanburg BL. Regulation of cellular glutathione. Am J Physiol 1989;257:L163-73.
16. Meister A. Glutathione metabolism. Methods Enzymol 1995;251:3-7.
17. Bolanos JP, Heales SJ, Peuchen S, Barker JE, Land JM, Clark JB. Nitric oxide-mediated mitochondrial damage: a potential neuroprotective role for glutathione. Free Radic Biol Med 1996;21:995-1001. (Pubitemid 26365953)
18. Hargreaves IP, Sheena Y, Land JM, Heales SJ. Glutathione deficiency in patients with mitochondrial disease: implications for pathogenesis and treatment. J Inherit Metab Dis 2005;28:81-8. (Pubitemid 40253986)
19. Verkaart S, Koopman WJ, Cheek J, van Emst-de Vries SE, van den Heuvel LW, Smeitink J Willems PH. Mitochondrial and cytosolic thiol redox state are not detectably altered in isolated human NADH:ubiquinone oxidoreductase defi-ciency. Biochim Biophys Acta 2007;1772:1041-51 (Pubitemid 47314228)
20. Auchere F, Santos R, Planamente S, Lesuisse E, Camadro JM. Glutathione-dependent redox status of frataxin-deficient cells in a yeast model of Friedreich's ataxia. Hum Mol Genet 2008;17:2790-802.
21. Piemonte F, Pastore A, Tozzi G, Tagliacozzi D, Santorelli FM, Carrozzo R, Casali C, Damiano M, Federici G, Bertini F. Glutathione in blood of patients with Friedreich's ataxia. Eur J Clin Invest 2001;31:1007-11. (Pubitemid 35300671)
22. Cole TJ, Freeman JV, Preece MA. Body mass index reference curves for the UK, 1990. Arch Dis Child 1995;73:25-9.
23. Ahola T, Levonen AL, Fellman V, Lapatto R. Thiol metabolism in preterm infants during the first week of life. Scand J Clin Lab Invest 2004;64:649-58. (Pubitemid 39425304)
24. Draper HH, Squires EJ, Mahmoodi H, Wu J, Agarwal S, Hadley M. A comparative evaluation of thiobarbituric acid methods for the determination of malondialdehyde in biological materials. Free Radic Biol Med 1993;15: 353-63. (Pubitemid 23283552)
25. Levine RL, Williams JA, Stadtman ER, Shacter E. Carbonyl assays for determination of oxidatively modified proteins. Methods Enzymol 1994;233:346-57.
26. Jones DP, Mody VC,Jr, Carlson JL, Lynn MJ, Sternberg P,Jr. Redox analysis of human plasma allows separation of pro-oxidant events of aging from decline in antioxidant defenses. Free Radic Biol Med 2002;33:1290-300. (Pubitemid 35246597)
27. Imhoff BR, Hansen JM. Extracellular redox status regulates Nrf2 activation through mitochondrial reactive oxygen species. Biochem J 2009;424:491-500.
28. Pastore A, Federici G, Bertini E, Piemonte F. Analysis of glutathione: implication in redox and detoxification. Clin Chim Acta 2003;333:19-39. (Pubitemid 36694824)
29. Smith CV, Jones DP, Guenthner TM, Lash LH, Lauterburg BH. Compartmentation of glutathione: implications for the study of toxicity and disease. Toxicol Appl Pharmacol 1996;140:1-12. (Pubitemid 26329456)
30. Metayer S, Seiliez I, Collin A, Duchene S, Mercier Y, Ger-aert PA, Tesseraud S. Mechanisms through which sulfur amino acids control protein metabolism and oxidative status. J Nutr Biochem 2008;19:207-15. (Pubitemid 351313892)
31. Tozzi G, Nuccetelli M, Lo Bello M, Bernardini S, Bellincampi L, Ballerini S, Gaeta, LM, Casali C, Pastore A, Federici G, Bertini E, Piemonte F. Antioxidant enzymes in blood of patients with Friedreich's ataxia. Arch Dis Child 2002;86:376-9. (Pubitemid 34478238)