Immunological approaches to the characterization and diagnosis of mitochondrial disease

Mitochondrion

Volumn 4, Issue 5-6 SPEC. ISS., 2004, Pages 417-426

  Capaldi, Roderick A ^a   Murray, James ^a   Byrne, Leah ^a   Janes, Michael S ^b   Marusich, Michael F ^a  

^a UNIVERSITY OF OREGON   (United States)

^b MOLECULAR PROBES INC   (United States)

Author keywords

Mitochondrial DNA; Monoclonal antibodies; OXPHOS; Pyruvate dehydrogenase; Respiratory chain

Indexed keywords

MONOCLONAL ANTIBODY; PYRUVATE DEHYDROGENASE COMPLEX;

ARTICLE; BIOPSY; CELL CULTURE; CLINICAL PROTOCOL; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FIBROBLAST; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMMUNOLOGICAL PROCEDURES; OXIDATIVE PHOSPHORYLATION; PRIORITY JOURNAL; PROCESS OPTIMIZATION; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY; QUANTITATIVE ANALYSIS; WESTERN BLOTTING;

EID: 10644249907     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mito.2004.07.006     Document Type: Article

References (26)

1. R. Aggeler J. Coons S.W. Taylor S.S. Ghosh J.J. Garcia R.A. Capaldi M.F. Marusich A functionally active human F1F0 ATPase can be purified by immunocapture from heart tissue and fibroblast cell lines. Subunit structure and activity studies J. Biol. Chem. 277 37 2002 33906-33912
2. M.A. Birch-Machin D.M. Turnbull Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues Methods Cell Biol. 65 2001 97-117
3. M.A. Birch-Machin H.L. Briggs A.A. Saborido L.A. Bindoff D.M. Turnbull An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria Biochem. Med. Metab. Biol. 51 1 1994 35-42
4. G.P. Davey L. Canevari J.B. Clark Threshold effects in synaptosomal and nonsynaptic mitochondria from hippocampal CA1 and paramedian neocortex brain regions J. Neurochem. 69 6 1997 2564-2570
5. B.J. Hanson R.A. Capaldi M.F. Marusich S.W. Sherwood An immunocytochemical approach to detection of mitochondrial disorders J. Histochem. Cytochem. 50 10 2002 1281-1288
6. P.C. Herrmann J.W. Gillespie L. Charboneau V.E. Bichsel C.P. Paweletz V.S. Calvert E.C. Kohn M.R. Emmert-Buck L.A. Liotta E.F. Petricoin 3rd. Mitochondrial proteome: Altered cytochrome c oxidase subunit levels in prostate cancer Proteomics 3 9 2003 1801-1810
7. C.C. Huang C.C. Chu C.Y. Pang Y.H. Wei Tissue mosaicism in the skeletal muscle and sural nerve biopsies in the MELAS syndrome Acta Neurol. Scand. 99 2 1999 125-129
8. Janes M.S. Hanson B.J. Hill D.M. Buller G.M. Agnew J.Y. Sherwood S.W. Cox G. Yamagata K. Capaldi R.A. 2003 J. Histochem. Cytochem. Submitted for publication
9. A.J. Janssen J.A. Smeitink L.P. van den Heuvel Some practical aspects of providing a diagnostic service for respiratory chain defects Ann. Clin. Biochem. 40 Pt 1 2003 3-8
10. M.A. Johnson B. Kadenbach M. Droste S.L. Old D.M. Turnbull Immunocytochemical studies of cytochrome oxidase subunits in skeletal muscle of patients with partial cytochrome oxidase deficiencies J. Neurol. Sci. 87 1 1988 75-90
11. M. Lib A. Rodriguez-Mari M.F. Marusich R.A. Capaldi Immunocapture and microplate-based activity measurement of mammalian pyruvate dehydrogenase complex Anal. Biochem. 314 1 2003 121-127
12. W. Lissens et al. Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency Hum. Mutat. 15 3 2000 209-219
13. M.F. Marusich B.H. Robinson J.W. Taanman S.J. Kim R. Schillace J.L. Smith R.A. Capaldi Expression of mtDNA and nDNA encoded respiratory chain proteins in chemically and genetically-derived Rho0 human fibroblasts: A comparison of subunit proteins in normal fibroblasts treated with ethidium bromide and fibroblasts from a patient with mtDNA depletion syndrome Biochim. Biophys. Acta 1362 2-3 1997 145-159
14. P.M. Matthews R.M. Brown L.J. Otero D.R. Marchington M. LeGris R. Howes L.S. Meadows M. Shevell C.R. Scriver G.K. Brown Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients Brain 117 Pt3 1994 435-443
15. J. Murray B. Zhang S.W. Taylor D. Oglesbee E. Fahy M.F. Marusich S.S. Ghosh R.A. Capaldi The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification J. Biol. Chem. 278 16 2003 13619-13622
16. R. Rossignol B. Faustin C. Rocher M. Malgat J.P. Mazat T. Letellier Mitochondrial threshold effects Biochem. J. 370 Pt 3 2003 751-762
17. Scheffler I.E. 1999. Mitochondria, John Wiley & Sons
18. E.A. Schon Mitochondrial genetics and disease Trends Biochem. Sci. 25 11 2000 555-560
19. E.A. Schon S. DiMauro Medicinal and genetic approaches to the treatment of mitochondrial disease Curr. Med. Chem. 10 23 2003 2523-2533
20. K. Szuhai J. Ouweland R. Dirks M. Lemaitre J. Truffert G. Janssen H. Tanke E. Holme J. Maassen A. Raap Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR Nucleic Acids Res 29 3 2001 E13
21. V. Tiranti et al. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency Am. J. Hum. Genet. 63 6 1998 1609-1621
22. R.H. Triepels B.J. Hanson L.P. van den Heuvel L. Sundell M.F. Marusich J.A. Smeitink R.A. Capaldi Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns J. Biol. Chem. 276 12 2001 8892-8897
23. J.C. von Kleist-Retzow E. Vial K. Chantrel-Groussard A. Rotig A. Munnich P. Rustin J.W. Taanman Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiency Biochim. Biophys. Acta 1455 1 1999 35-44
24. D.C. Wallace Mitochondrial diseases in man and mouse Science 283 5407 1999 1482-1488
25. Williams S.L. Valnot I. Rustin P. Taanman J.W. (2003). Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1 or SURF1. J. Biol. Chem.
26. M. Zeviani V. Carelli Mitochondrial disorders Curr. Opin. Neurol. 16 5 2003 585-594