Diagnostic methods for mitochondrial diseases are presented: biochemical analysis of blood, muscle biopsy, isolation of mitochondria and preparation of skinned fibers for respiratory chain and oxidative phosphorylation analysis, analysis of activity of respiratory chain enzymatic complexes, histochemistry, electron microscopy, molecular and MRS analysis.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Barshop BA (2004) Metabolomic approach to mitochondrial diseases: correlation of urine organic acid. Mitochondrion 4:521–527
Blau N, Duran M, Gibson KM, Blaskovics ME (eds) (2002) Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases. 2nd edn. Springer, Heidelberg
Bosetti F, Brizzi F, Barogi S, Mancuso M, Siciliano G, Tendi AA, Murri L, Rapoport SI, Solaini G (2002) Cytochrome c oxidase and mitochondrial F1F0-ATPase (ATP synthase) activities in platelets and brain from patients with Alzheimer’s disease. Neurobiol Ageing 23:371–376
Coore HG, Denton MR, Martin BR, Randle PJ (1971) Regulation of adipose tissue pyruvate dehydrogenase by insulin and other hormones. Biochem J 125:115–127
Darley-Usmar VM, Rickwood D, Wilson MT (1987) Mitochondria: A Practical Approach. IRL Press, Oxford, pp 321
DiMauro S (2000) Mitochondrial encephalomyopathies: where next? Acta Myologica 19:181–188
Fernandes J, Saudubray JM, Van den Berghe G (eds) (2000) Inborn Metabolic Diseases. 3rd edn. Springer, Heidelberg
Gvozdjakova A, Kucharska J, Kuznetsov AV, Gvozdjak J (1990) Use of myocardial skinned fibres for the study of mitochondrial oxidative phosphorylation during ischaemia. Cor Vasa 32(4):343–350
Gvozdjakova A, Kucharska J (2001) Implication of coenzyme Q depletion in heart transplantation. In: Kagan VE, Quinn PJ (eds) Coenzyme Q: Molecular Mechanisms in Health and Disease. CRC Press, West Palm Beach, FL, pp 293–230
Hatefi Y, Stiggal DL (1978) Preparation and properties of succinate: ubiquinone oxidoreductase (complex II). Methods Enzymol 53:21–27
Hoffmann GF, Nyhan WL, Zschocke J, Kahler SG, Mayatepek E (eds) (2002) Inherited Metabolic Diseases. Lippincott Williams & Wilkins, Baltimore, MD12. Kucharska J, Gvozdjakova A, Mizera S, Braunova Z, Schreinerova Z, Schramekova E, Pechan I, Fabian J (1998) Participation of coenzyme Q10 in the rejection development of the transplanted heart. Physiol Res 47:399–404
Kunz WS, Kuznetsov AV, Schulze W, Eichhorn K, Schild L, Strigoww F, Bohnensack R, Neuhof S, Grasshoff H, Neumann HW, Gellerich FN (1993) Functional characterization of mitochondrial oxidative phosphorylation in saponin-skinned human muscle fibers. Biochim Biophys Acta 1144:46–53
Kuznetsov AV, Winkler K, Kirches E, Lins H, Feinster H, Kunz WS (1997) Application of inhibitor titrations for the detection of oxidative phosphorylation defects in saponin-skinned muscle fibers of patients with mitochondrial diseases. Biochim Biophys Acta 1360:142–150
Lang JK, Gohil K, Packer L (1986) Simultaneous determination of tocopherols, ubiquinols, and ubiquinones in blood, plasma, tissue homogenates, and subcellular fractions. Anal Biochem 157:106–116
Lowry DH, Rosenbrough NY, Farr AL, Randall RJ (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193:265–276
Munnich A (2001) Defects of the respiratory chain. Mitochondrial Medicine 2001. Program Book, San Diego, CA, pp 1–24, March 2–4
Palmer JW, Tandler B, Hoppel CL (1977) Biochemical properties of subsarcolemmal and interfibrillar mitochondria isolated from rat cardiac muscle. J Biol Chem 252:8731–8739
Ragan CI, Wilson MT, Darley-Usmar VM, Lowe PN (1987) Subfractionation of mitochondria, and isolation of the proteins of oxidative phosphorylation. In: Mitochondria: A Practical Approach. IRL Press, London, pp 79–112
Rickwood D, Wilson MT, Darley-Usmar VM (1987) Isolation and characteristics of intact mitochondria. In: Darley-Usmar VM, Rickwood D, Wilson TM (eds) Mitochondria: A Practical Approach. IRL Press, London, pp 1–17
Rouslin W, Millard RW (1980) Canine myocardial ischemia: defect in mitochondrial electron transfer complex I. J Mol Cell Cardiol 12:639–645
Santos JH, Hunakova L, Chen Y, Bortner C, Van Houten B (2003) Cell-sorting experiments link persistent mitochondrial DNA damage with loss of mitochondrial membrane potential and apoptotic cell death. J Biol Chem 278:1728–1734
Sarma JS, Ikeda S, Fischer R, Maruyama Y, Eishaar R, Bing RJ (1976) Biochemical and contractile properties of heart muscle after prolonged alcohol administration. J Mol Cell Cardiol 8:951–972
Sarnat HB, Marin-Garcia J (2005) Pathology of mitochondrial encephalomyopathies. Can J Neurol Sci 32:152–166
Taussky HH, Shorr E (1953) A micro colometric method for the determination of inorganic phosphorus. J Biol Chem 248:558–595
Veksler VI, Kuznetsov AV, Sharov VG, Kapelko VI, Saks VA (1987) Mitochondrial respiratory parameters in cardiac tissue: a novel method of assessment by using saponin-skinned fibers. Biochim Biophys Acta 892:191–196
Wharton DC, Tzagoloff A (1967) Cytochrome oxidase from beef heart mitochondria. Methods Enzymol 10:245–250
Zhang D, Mott JL, Farrar P, Reyrse JS, Chang SW, Stevens M, Denniger G, Zassenhaus HP (2003) Mitochondrial DNA mutations activate the mitochondrial apoptotic pathway and cause dilated cardiomyopathy. Cardiovasc Res 57(1):147–157
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2008 Springer Science + Business Media B.V
About this chapter
Cite this chapter
Kucharská, J., Gvozdjáková, A., Hlavatá, A. (2008). Methods for Diagnosis of Mitochondrial Diseases. In: Gvozdjáková, A. (eds) Mitochondrial Medicine. Springer, Dordrecht. https://doi.org/10.1007/978-1-4020-6714-3_14
Download citation
DOI: https://doi.org/10.1007/978-1-4020-6714-3_14
Publisher Name: Springer, Dordrecht
Print ISBN: 978-1-4020-6713-6
Online ISBN: 978-1-4020-6714-3
eBook Packages: MedicineMedicine (R0)