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  • 1
    Electronic Resource
    Electronic Resource
    End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency: no contra-indication for liver transplantation (2000)
    Springer
    European journal of pediatrics 159 (2000), S. 523-526 
    Details
    ISSN: 1432-1076
    Keywords: Key words End-stage liver disease ; Liver transplantation ; Inborn errors of metabolism ; Mitochondrial respiratory chain deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The prerequisite for liver transplantation as a therapeutic option for inherited metabolic diseases should be that the enzyme defect, being responsible for the major clinical (hepatic and/or extra-hepatic) abnormalities, is localised in the liver. Furthermore, no adequate dietary or pharmacological treatment should be available or such treatment should have an unacceptable influence on the quality of life. We report an infant, who developed end-stage liver disease with persistent lactic acidaemia in his first months of life. Analysis of the mitochondrial respiratory chain in liver tissue revealed a combined partial complex I and IV deficiency. No extra-hepatic involvement could be demonstrated by careful screening for multiple organ involvement, including analysis of the mitochondrial respiratory chain in muscle tissue and cultured skin fibroblasts. The boy received a reduced size liver graft at the age of 8 months. He recovered successfully. Almost 5 years after transplantation he is in good clinical condition. No clinical or biochemical signs of any organ dysfunction have been demonstrated. The considerations on which basis it was decided that there was no contra-indication to perform liver transplantation in this patient are discussed. Conclusion The possibility of a mitochondrial respiratory chain deficiency should be considered in liver disease of unknown origin prior to liver transplantation. Liver transplantation is a therapeutic option in mitochondrial respiratory chain deficiency-based end-stage liver disease provided that extra-hepatic involvement is carefully excluded.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310051324
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  • 2
    Electronic Resource
    Electronic Resource
    Human Mitochondrial Transmembrane Metabolite Carriers: Tissue Distribution and Its Implication for Mitochondrial Disorders (1998)
    Springer
    Journal of bioenergetics and biomembranes 30 (1998), S. 277-284 
    Details
    ISSN: 1573-6881
    Keywords: Mitochondrial transmembrane carrier ; tissue distribution ; mitochondriopathy ; adenine nucleotide translocator ; phosphate carrier ; voltage-dependent anion channel ; citrate carrier ; oxoglutarate carrier ; carnitine-acylcarnitine carrier
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Physics
    Notes: Abstract Mitochondrial transmembrane carrier deficiencies are a recently discovered group of disorders, belonging to the so-called mitochondriocytopathies. We examined the human tissue distribution of carriers which are involved in the process of oxidative phosphorylation (adenine nucleotide translocator, phosphate carrier, and voltage-dependent anion channel) and some mitochondrial substrate carriers (2-oxoglutarate carrier, carnitine-acylcarnitine carrier, and citrate carrier). The tissue distribution on mRNA level of mitochondrial transport proteins appears to be roughly in correlation with the dependence of these tissues on mitochondrial energy production capacity. In general the main mRNA expression of carriers involved in mitochondrial energy metabolism occurs in skeletal muscle and heart. Expression in liver and pancreas differs between carriers. Expression in brain, placenta, lung, and kidney is lower than in the other tissues. Western and Northern blotting experiments show a comparable HVDAC1 protein and mRNA distribution for the tested tissues. Patient's studies showed that cultured skin fibroblasts may not be a reliable alternative for skeletal muscle in screening for human mitochondrial carrier defects.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1020501021222
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  • 3
    Electronic Resource
    Electronic Resource
    Polyacrylamide gel technique for the histochemical demonstration of soluble enzymes (1976)
    Springer
    Histochemistry and cell biology 50 (1976), S. 81-89 
    Details
    ISSN: 1432-119X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Soluble enzymes were immobilized and visualized by polyacrylamide gel slabs, impregnated with the incubation medium including auxiliairy enzymes. The method has several advantages over existing techniques which make use of gel films or a semipermeable membrane. The diffusion of tissue compounds is effectively limited, while auxiliary enzymes may be operative. Moreover the viscosity of the medium is temperature-independent so that the incubation temperature can be varied. To demonstrate the suitability of the method glycerol-3-phosphate dehydrogenase, lactate dehydrogenase, glucose-6-phosphate dehydrogenase, hexokinase, phosphoglucomutase and aldolase were visualized in human or rat skeletal muscle. Cytosolic and mitochondrial glycerol-3-phosphate dehydrogenase were both visualized in the absence of added NAD+ and menadione. For the visualization of ATP producing enzymes, like creatine kinase and pyruvate kinase, the method is not suitable.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00495819
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  • 4
    Electronic Resource
    Electronic Resource
    Importance of mitochondrial transmembrane processes in human mitochondriopathies (1996)
    Springer
    Journal of bioenergetics and biomembranes 28 (1996), S. 109-114 
    Details
    ISSN: 1573-6881
    Keywords: Human ; mitochondriopathy ; oxidative phosphorylation ; energy metabolism ; membrane transport ; VDAC ; phosphate carrier ; adenine nucleotide translocator ; cation transport
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Physics
    Notes: Abstract In a substantial group of subjects suspected to have a mitochondriopathy no defect in the mitochondrial energy metabolism (pyruvate dehydrogenase complex or respiratory chain complexes) can be demonstrated. At least in some of these subjects it seems justified to consider a defect in one of the proteins which mediate the transport of several ions and substrates across the mitochondrial membranes. Of particular interest are proteins which are directly involved in the process of oxidative phosphorylation, such as the adenine nucleotide translocator (ANT) and the phosphate carrier (PiC). However, defects in transmembrane ion transporters also may induce impaired energy metabolism probably as a result of osmotic disturbances within the mitochondrial matrix. In this respect, the voltage-dependent anion channel (VDAC) and other ion channels have to be taken into consideration. Here we review the still incomplete knowledge of the occurrence of ANT, PiC, VDAC, cation channels, and a few substrate carriers in human tissues, as well as their possible role in pathology.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02110640
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  • 5
    Electronic Resource
    Electronic Resource
    Cytoarchitectural and metabolic adaptations in muscles with mitochondrial and cytosolic creatine kinase deficiencies (1998)
    Springer
    Molecular and cellular biochemistry 184 (1998), S. 183-194 
    Details
    ISSN: 1573-4919
    Keywords: skeletal muscle mitochondria ; creatine kinase ; metabolic adaptation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Medicine
    Notes: Abstract We have blocked creatine kinase (CK) mediated phosphocreatine (PCr) ⇄ ATP transphosphorylation in mitochondria and cytosol of skeletal muscle by knocking out the genes for the mitochondrial (ScCKmit) and the cytosolic (M-CK) CK isoforms in mice. Animals which carry single or double mutations, if kept and tested under standard laboratory conditions, have surprisingly mild changes in muscle physiology. Strenuous ex vivo conditions were necessary to reveal that MM-CK absence in single and double mutants leads to a partial loss of tetanic force output. Single ScCKmit deficiency has no noticeable effects but in combination the mutations cause slowing of the relaxation rate. Importantly, our studies revealed that there is metabolic and cytoarchitectural adaptation to CK defects in energy metabolism. The effects involve mutation type-dependent alterations in the levels of AMP, IMP, glycogen and phosphomonoesters, changes in activity of metabolic enzymes like AMP-deaminase, alterations in mitochondrial volume and contractile protein (MHC isoform) profiles, and a hyperproliferation of the terminal cysternae of the SR (in tubular aggregates). This suggests that there is a compensatory resiliency of loss-of-function and redirection of flux distributions in the metabolic network for cellular energy in our mutants.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1006811717709
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  • 6
    Electronic Resource
    Electronic Resource
    Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex (1997)
    Springer
    Molecular and cellular biochemistry 174 (1997), S. 243-247 
    Details
    ISSN: 1573-4919
    Keywords: mitochondrial myopathy ; non-respiratory chain defects ; mitochondrial transport disorders
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Medicine
    Notes: Abstract Disturbances in substrate oxidations in muscle mitochondria from patients with a suspicion of a mitochondrial myopathy may arise from a deficiency of one or more of the complexes of the respiratory chain or of the pyruvate dehydrogenase complex. However, we found no clear-cut defect in a substantial part of such patients. In this report we discuss some of the other possibilities which could account for the disturbed substrate oxidation rates. Special attention will be paid to defects which are localized outside the respiratory chain, such as defects in post-respiratory chain enzymes, defects in transport mechanisms of the mitochondrial inner or outer membrane, deficiency of cofactors and deficiency of heat-shock protein. (Mol Cell Biochem 174: 243–247, 1997)
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1006868810424
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  • 7
    Electronic Resource
    Electronic Resource
    Electrophoretic separation of multiprotein complexes from blood platelets and cell lines: Technique for the analysis of diseases with defects in oxidative phosphorylation (1996)
    Weinheim : Wiley-Blackwell
    Electrophoresis 17 (1996), S. 709-714 
    Details
    ISSN: 0173-0835
    Keywords: Blue native electrophoresis ; Integrins ; Mitochondrial encephalomyopathy ; Pearson syndrome ; Platelet membrane glycoprotein complex ; Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: A two-dimensional electrophoretic technique combining blue native polyacrylamide gel electrophoresis (BN-PAGE) with Tricine sodium dodecyl sulfate (SDS)-PAGE was previously used for the localization of oxidative phosphorylation (OXPHOS) defects in human diseases starting from biopsy or autopsy tissues (Schägger, H., Electrophoresis 1995, 16, 763-770). In the present work the technique was extended for the resolution of OXPHOS enzymes from platelets and tissue-cultured cells. Silver staining is required to detect the protein subunits of OXPHOS complexes in two-dimensional gels. However, the use of cultured cells has major implications for patients with mitochondrial encephalomyopathies since it will reduce the number of invasive muscle biopsies. The ease of isolating the platelet membrane glycoprotein complex from a few milliliters of blood makes it possible to analyze this complex and its protein subunits in bleeding disorders like Glanzmann's thrombasthenia.
    Additional Material: 4 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/elps.1150170415
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