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Importance of mitochondrial transmembrane processes in human mitochondriopathies

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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.

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Abbreviations

MITEM:

mitochondrial energy metabolism

ANT:

adenine nucleotide translocator

PiC:

phosphate carrier

VDAC:

voltage-dependent anion channel

IMM:

inner mitochondrial membrane

OMM:

outer mitochondrial membrane

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Authors and Affiliations

  1. Department of Pediatrics, University Hospital, Nijmegen, The Netherlands

    Marjan Huizing, Wim Ruitenbeek, Frans J. M. Trijbels, Lambert P. van den Heuvel & Udo Wendel

  2. Institute of Biochemical and Pharmacological Sciences, University of Catania, Catania, Italy

    Vito DePinto

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  1. Marjan Huizing
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  2. Vito DePinto
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  3. Wim Ruitenbeek
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  4. Frans J. M. Trijbels
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  5. Lambert P. van den Heuvel
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  6. Udo Wendel
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Huizing, M., DePinto, V., Ruitenbeek, W. et al. Importance of mitochondrial transmembrane processes in human mitochondriopathies. J Bioenerg Biomembr 28, 109–114 (1996). https://doi.org/10.1007/BF02110640

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