Flow cytometric evaluation of defects of the mitochondrial respiratory chain

Journal of Child Neurology

Volumn 14, Issue 8, 1999, Pages 518-523

  Williams, Andrew J ^a,b   Coakley, John C ^b   Christodoulou, John ^a,b  

^a UNIVERSITY OF SYDNEY   (Australia)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; RHODAMINE 123;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFECT; FEMALE; FIBROBLAST CULTURE; FLOW CYTOMETRY; FLUORESCENCE; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; MALE; MELAS SYNDROME; MITOCHONDRIAL RESPIRATION; NEWBORN; OXIDATION; PRIORITY JOURNAL; RESPIRATORY CHAIN; SKIN FIBROBLAST;

EID: 0032867059     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307389901400807     Document Type: Article

References (30)

1. Shoffner JM, Wallace DC: Oxidative phosphorylation diseases, in Scriver CS, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Basis of Inherited Disease, 7th ed. New York, McGraw-Hill, 1995, pp 1535-1609.
2. Crimmins D, Morris JGL, Walker GL: Mitochondrial encephalopathy: Variable clinical expression within a single kindred. J Neurol Neurosurg Psychiatry 1993;56:900-905.
3. Hammans SR, Morgan-Hughes JA: Mitochondrial myopathies: Clinical features, investigation, treatment and genetic counselling, in Schapira AHV, DiMauro S (eds): Mitochondrial Disorders in Neurology. Oxford, Butterworth Heinemann, 1994, pp 49-74.
4. Rustin P, Chretien D, Bourgeron T, et al: Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 1994;228:35-51.
5. Trounce IA, Kim YL, Jun AS, Wallace DC: Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cybrids. Methods Enzymol 1996;264:484-509.
6. Robinson BH, Ward J, Goodyer P, Baudet A: Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidaemia. J Clin Invest 1986;77: 1422-1427.
7. Henderson LM, Chappell JB: Dihydrorhodamine 123: A fluorescent probe for superoxide generation. Eur J Biochem 1993;217: 973-980.
8. Sobreira C, Davidson M, King MP, Miranda AF: Dihydrorhodamine 123 identifies impaired mitochondrial respiratory chain function in cultured cells harboring mitochondrial DNA mutations. J Histochem Cytochem 1996;44:571-579.
9. Leu(UUR) mutation and complex I deficiency responsive to riboflavin. J Pediatr 1997;130:138-145.
10. Ellaway C, North K, Arbuckle S, Christodoulou J: Complex I deficiency in association with structural abnormalities of the diaphragm and brain. J Inher Metab Dis 1998;21:72-73.
11. Freckman M-L, Thorburn DR, Dennett X, et al: Electron transport, chain defect presenting as hypoglycemia. J Pediatr 1997;130: 431-436.
12. Freshney RI: Culture of Animal Cells. New York, Wiley-Liss, 1994.
13. Estornell E, Fato R, Pallotti F, Lenanz G: Assay conditions for the mitochondrial NADH: Coenzyme Q oxidoreductase. FEBS Lett 1993;332:127-131.
14. Cooperstein SJ, Lazzarow A: A microspectrophotometric method for the determination of cytochrome oxidase. J Biol Chem 1951; 189:665-670.
15. Shepard D, Garland PB: Citrate synthase from rat liver. Methods Enzymol 1969;13:11-16.
16. Williams AJ, Coakley J, Christodoulou J: Automated quantitation of total protein in cultured skin fibroblasts. Clin Chim Acta 1997; 259:129-136.
17. Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acid Res 1988;16:1215.
18. Chou Q, Russell M, Birch DE, et al: Prevention of pre-PCR mispriming and primer dimerization improves low-copy-number amplifications. Nucleic Acid Res 1992;20:1717-1723.
19. Anderson S, Bankier AT, Barrell BG, et al: Sequence and organization of the human mitochondrial genome. Nature 1981;290: 457-465.
20. Robinson BH: Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects. Methods Enzymol 1996;264: 454-464.
21. Van Pelt LJ, van Zwieten R, Weening RS, et al: Limitations on the use of dihydrorhodamine 123 for flow cytometric analysis of the neutrophil respiratory burst. J Immunol Methods 1996;191: 188-196.
22. Cross AR, Jones OTG: Enzymic mechanisms of superoxide production. Biochim Biophys Acta 1991;1057:281-298.
23. Garcia-Ruiz C, Colel A, Mari M, et al: Direct effect of ceramide on the mitochondrial electron transport chain leads lo generation of reactive oxygen species. Role of mitochondrial glutathione. J Biol Chem 1997;272:11369-11377.
24. Dugan LL, Sensi SL, Canzoniero LM, et al: Mitochondrial production of reactive oxygen species in cortical neurons following exposure to N-methyl-D-aspartate. J Neurosci 1995;15:6377-6388.
25. Alpert SE, Walenga RW, Jaspers I, et al: Ozone inactivates cyclo-oxygenase in human tracheal epithelial cells without altering PGHS-2 mRNA or protein. Am J Physiol 1997;272:L879-L887.
26. Masaki H, Atsumi T, Sakurai H: Detection of hydrogen peroxide and hydroxyl radicals in murine skin fibroblasts under UVB irradiation. Biochem Biophys Res Comm 1995;206:474-479.
27. 2 in cultured endothelial cells. Arch Biochem Biophys 1993;302:348-355.
28. Takano JI, Koizumi H, Ohkawara A, et al: Ultraviolet action spectra for peroxide generation in human and pig epidermal keratinocytes loaded with dihydrorhodamine 123. Arch Dermatol Res 1995;287:321-325.
29. Bourgeron T, Chretien D, Amati P, et al: Expression of respiratory chain deficiencies in human cultured cells. Neuromuscul Disord 1993;3:605-608.
30. Gerard BT, Bourgeron D, Chretien A, et al: Undine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts. Eur J Pediatr 1993;152:270.