Biochemical Genetics

, Volume 47, Issue 9–10, pp 739–748 | Cite as

Comparative Analyses of Disease Risk Genes Belonging to the Acyl-CoA Synthetase Medium-Chain (ACSM) Family in Human Liver and Cell Lines

  • Inka Boomgaarden
  • Christina Vock
  • Maja Klapper
  • Frank DöringEmail author


The human ACSM1, 2A and B, 3, and 5 genes, located on chromosome 16p12-13, encode for enzymes catalyzing the activation of medium-chain length fatty acids. Association studies have linked several polymorphisms of these genes to traits of insulin resistance syndrome. In our study, ACSM transcripts showed 3 to >400-fold higher expression levels in human liver when compared to cell lines by qRT-PCR. This difference was also evident at the protein level, as shown for ACSM2. In liver, ACSM2 was the most abundant transcript, showing sixfold (vs. ACSM3) to >300-fold higher expression levels (vs. ACSM1). Mitochondrial localization of the ACSM2 protein and the presence of an N-terminal targeting sequence were shown by GFP-tagging. We have shown ACSM2B to be the predominant transcript in human liver, and genetic variations of this gene could therefore play an important role in disease susceptibility.


Acyl-CoA synthetase medium-chain (ACSM) Medium-chain fatty acid Liver HuH-7 HepG2 



We thank Daniela Hallack for excellent technical assistance. This study was financially supported by the Federal Ministry of Education and Research (Project: Fat and Metabolism: gene variation, gene regulation, and gene function; AZ 0312823A/B).


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Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  • Inka Boomgaarden
    • 1
  • Christina Vock
    • 1
  • Maja Klapper
    • 1
  • Frank Döring
    • 1
    Email author
  1. 1.Department of Molecular Prevention, Institute of Human Nutrition and Food ScienceChristian-Albrechts-University KielKielGermany

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