Journal of Bioenergetics and Biomembranes

, Volume 30, Issue 3, pp 277–284

Human Mitochondrial Transmembrane Metabolite Carriers: Tissue Distribution and Its Implication for Mitochondrial Disorders


  • Marjan Huizing
    • Department of PediatricsUniversity Hospital
  • Wim Ruitenbeek
    • Department of PediatricsUniversity Hospital
  • Lambert P. van den Heuvel
    • Department of PediatricsUniversity Hospital
  • Vincenza Dolce
    • Department of Pharmaco-BiologyUniversity of Bari
  • Vito Iacobazzi
    • Department of Pharmaco-BiologyUniversity of Bari
  • Jan A. M. Smeitink
    • Department of PediatricsUniversity Hospital
  • Ferdinando Palmieri
    • Department of Pharmaco-BiologyUniversity of Bari
  • J. M. Frans Trijbels
    • Department of PediatricsUniversity Hospital

DOI: 10.1023/A:1020501021222

Cite this article as:
Huizing, M., Ruitenbeek, W., van den Heuvel, L.P. et al. J Bioenerg Biomembr (1998) 30: 277. doi:10.1023/A:1020501021222


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.

Mitochondrial transmembrane carriertissue distributionmitochondriopathyadenine nucleotide translocatorphosphate carriervoltage-dependent anion channelcitrate carrieroxoglutarate carriercarnitine-acylcarnitine carrier

Copyright information

© Plenum Publishing Corporation 1998