Quality improvement of mitochondrial respiratory chain complex enzyme assays using Caenorhabditis elegans

Genetics in Medicine

Volumn 13, Issue 9, 2011, Pages 794-799

  Chen, Xiulian ^a   Thorburn, David R ^b   Wong, Lee Jun ^c   Vladutiu, Georgirene D ^d   Haas, Richard H ^e   Le, Thuy ^e   Hoppel, Charles ^f   Sedensky, Margaret ^a,g   Morgan, Philip ^a,g   Hahn, Si Houn ^a,g  

^a SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d GUTHRIE RESEARCH INSTITUTE   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

C. elegans; electron transport chain; enzyme assays; mitochondria; quality assessment; quality improvement; respiratory chain complex

Indexed keywords

CYTOCHROME B5 REDUCTASE; CYTOCHROME C OXIDASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); SUCCINATE DEHYDROGENASE;

ARTICLE; AUSTRALIA; BACTERIUM MUTANT; CAENORHABDITIS ELEGANS; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME ASSAY; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX ENZYME ASSAY; MITOCHONDRION; NONHUMAN; TOTAL QUALITY MANAGEMENT; UNITED STATES; WILD TYPE;

ANIMALS; CAENORHABDITIS ELEGANS; CLINICAL LABORATORY TECHNIQUES; ELECTRON TRANSPORT; ENZYME ASSAYS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MULTIENZYME COMPLEXES; MUTATION; QUALITY CONTROL;

CAENORHABDITIS ELEGANS;

EID: 80052575002     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31821afca5     Document Type: Article

References (26)

1. Skladal D, Halliday J, Thorburn DR. Minimum birth prevalence of mitochondrial respiratory chain disorders in children. Brain 2003;126:1905-1912. (Pubitemid 36917349)
2. Gibson K, Halliday JL, Kirby DM, Yaplito-Lee J, Thorburn DR, Boneh A. Oxidative phosphorylation disorders presenting in neonates: clinical manifestations and enzymatic and molecular diagnoses. Pediatrics 2008;122: 1003-1008.
3. Koenig MK. Presentation and diagnosis of mitochondrial disorders in children. Pediatr Neurol 2008;38:305-313. (Pubitemid 351503725)
4. McFarland R, Turnbull DM. Batteries not included: diagnosis and management of mitochondrial disease. J Intern Med. 2009; 265, 210-228.
5. Gellerich FN, Mayr JA, Reuter S, Sperl W, Zierz S. The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes. Mitochondrion 2004;4:427-439. (Pubitemid 39646796)
6. College of American Pathology. Available at: http://www.cap.org/apps/cap. portal?-nfpb=true&-pageLabel=accreditation. Accessed October 6, 2010.
7. Abu-Amero KK. Overview of the laboratory accreditation programme of the College of American Pathologists. East Mediterr Health J2002;8:654-663. (Pubitemid 39654833)
8. Lott JA, Manning NR, Kyler MK. Proficiency testing in a medical-needs context. Clin Chem 1989;35:347-354. (Pubitemid 19086677)
9. Oglesbee D, Freedenberg D, Kramer KA, Anderson BD, Hahn SH. Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis. Pediatric Neurol 2006;35:289-292. (Pubitemid 44397434)
10. Kirby DM, Thorburn DR, Turnbull DM, Taylor RW. Biochemical assays of respiratory chain complex activity. Methods Cell Biol 2007;80:93-119. Review.
11. Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. Genome Res 2000;10:703-713. (Pubitemid 30333199)
12. Falk MJ, Zhang Z, Rosenjack JR, et al. Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans. Mol Genet Metab 2008;93:388-397.
13. Kayser EB, Morgan PG, Hoppel CL, Sedensky MM. Mitochondrial expression and function of GAS-1 in Caenorhabditis elegans. J Biol Chem 2001; 276:20551-20558.
14. Feng J, Bussiere F, Hekimi S. Mitochondrial electron transport is a key determinant of life span in Caenorhabditis elegans. Dev Cell 2001;1:633-644. (Pubitemid 33586116)
15. Ishii N, Ishii T, Hartman PS. The role of the electron transport gene SDHC on lifespan and cancer. Exp Gerontol 2006;41:952-956. (Pubitemid 44821689)
16. Morgan PG, Kayser EB, Sedensky MM. C. elegans and volatile anesthetics. WormBook 2007:1-11. Review.
17. Suthammarak W, Yang YY, Morgan PG, Sedensky MM. Complex I function is defective in complex IV-deficient Caenorhabditis elegans. J Biol Chem 2009;284:6425-6435.
18. Kramer KA, Oglesbee D, Hartman SJ, et al. Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts. Clin Chem 2005;51:2110-2116. (Pubitemid 41532627)
19. Trounce IA, Kim YL, Jun AS, Wallace DC. Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines. Methods Enzymol 1996;264:484-509.
20. Janssen AJ, Trijbels FJ, Sengers RC, et al. Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts. Clin Chem 2007;53:729-734. (Pubitemid 46580245)
21. Thorburn DR, Chow CW, Kirby DM. Respiratory chain enzyme analysis in muscle and liver. Mitochondrion 2004;4:363-375. (Pubitemid 39646790)
22. Haas RH, Parikh S, Falk MJ, et al. The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab 2008;94:16-37.
23. Hoppel CL, Kerr DS, Dahms B, Roessmann U. Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex 1 of mitochondrial electron transport: fatal infantile lactic acidosis and hyper-metabolism with skeletal-cardiac myopathy and encephalopathy. J Clin Invest 1987;80:71-77. (Pubitemid 17097518)
24. Krahenbuhl S, Talso C, Wiesmann U, Hoppel CL. Development and evaluation of a spectrophotometric assay for complex III in isolated mitochondria, tissues and fibroblasts from rats and humans. Clin Chim Acta 1994;230:177-187. (Pubitemid 24319743)
25. Suthammarak W, Morgan PG, Sedensky MM. Mutations in mitochondrial complex III uniquely affect complex I in Caenorhabditis elegans. J Biol Chem 2010;285:40724-40731.
26. Medja F, Allouche S, Frachon P, et al. Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis. Mitochondrion 2009;9:331-339.