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Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome)

Abstract

The Zellweger syndrome is a lethal hereditary disease characterized by the absence of peroxisomes (microbodies) in liver and kidney, and variable abnormalities in mitochondria1–8. We show here that tissues from five infants that had died of this syndrome contain less than 10% of the normal levels of phosphatidylethanolamine plasmalogen (pPE), a major phospholipid component of cellular membranes. Heart and muscle, but not other tissues, also contain a substantial fraction of phosphatidylcholine plasmalogen (pPC), and this fraction is also strongly reduced in the Zellweger patients. No other abnormalities in cellular phospholipids were detected. Key enzymes of the biosynthesis of plasmalogens have previously been shown to be exclusively located in the peroxisomes of rodent liver and the microperoxisomes of rodent brain9,10. We infer that the corresponding enzymes are also located in peroxisomes in man and that the absence of peroxisomes in Zellweger patients leads to their inability to synthesize plasmalogens. Our results support the notion11 that the biosynthetic role of peroxisomes in mammals has thus far been underestimated. We suggest that the defect in plasmalogen synthesis and possibly as yet unknown peroxisomal reactions are responsible for the diverse abnormalities observed in Zellweger patients.

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References

  1. Goldfischer, S. et al. Science 182, 62–64 (1973).

    Article  ADS  CAS  Google Scholar 

  2. Danks, D. M., Tippett, P., Adams, C. & Campbell, P. J. Pediat. 86, 382–387 (1975).

    Article  CAS  Google Scholar 

  3. Versmold, H. T. et al. Eur. J. Pediatr. 124, 261–275 (1977).

    Article  CAS  Google Scholar 

  4. Hanson, R. F., Szczepanik-v. Leeuwen, P., Williams, G. C., Grabowski, G. & Sharp, H. L. Science 203, 1107–1108 (1979).

    Article  ADS  CAS  Google Scholar 

  5. Müller-Höcker, J., Bise, K., Endres, W. & Hübner, G. Virchows Arch. path. Anat. Physiol. 393, 103–114 (1981).

    Article  Google Scholar 

  6. Govaerts, L., Monnens, L., Tegelaers, W., Trijbels, F. & van Raay-Selten, A. Eur. J. Pediat. 139, 125–128 (1982).

    Article  CAS  Google Scholar 

  7. Trijbels, J. M. F. et al. Pediat. Res. 17, 514–517 (1983).

    Article  CAS  Google Scholar 

  8. Mooi, W. J. et al. Ultrastruct. Path. (in the press).

  9. Hajra, A. K., Burke, C. L. & Jones, C. L. J. biol. Chem. 254, 10896–10900 (1979).

    CAS  PubMed  Google Scholar 

  10. Hajra, A. K. & Bishop, J. E. Ann. N. Y. Acad. Sci. 386, 170–181 (1982).

    Article  ADS  CAS  Google Scholar 

  11. Borst, P. Trends biochem. Sci. 8, 269–272 (1983).

    Article  CAS  Google Scholar 

  12. Böck, P., Kramar, R. & Pavelka, M. Peroxisomes and Related Particles in Animal Tissues (Springer, New York, 1980).

    Book  Google Scholar 

  13. Lazarow, P. B. in The Liver: Biology and Pathobiology (eds Arias, I. M., Popper, H., Schachter, D. & Shafritz, D. A.) 27–39 (Raven, New York, 1982).

    Google Scholar 

  14. Breton-Gorius, J. & Guichard . Am. J. Path. 79, 523–536 (1975).

    CAS  PubMed  Google Scholar 

  15. Shohet, S. B. in Lipid Metabolism in Mammals Vol. 1 (ed. Snyder, F.) 191–208 (Plenum, London, 1977).

    Book  Google Scholar 

  16. Mangold, H. K. in Ether Lipids, Chemistry and Biology (ed. Snyder, F.) 157–176 (Academic, London, 1972).

    Book  Google Scholar 

  17. Lee, T., Malone, B., Wasserman, S. I., Fitzgerald, V. & Snyder, F. Biochem. biophys. Res. Commun. 105, 1303–1308 (1982).

    Article  CAS  Google Scholar 

  18. Horrocks, L. A. in Ether Lipids, Chemistry and Biology (ed. Snyder, F.) 177–272 (Academic, London, 1972).

    Book  Google Scholar 

  19. Alberts, B. et al. Molecular Biology of the Cell (Garland, New York, 1983).

    Google Scholar 

  20. Bligh, E. G. & Dyer, W. J. Can. J. biochem. Physiol. 37, 911–917 (1959).

    Article  CAS  Google Scholar 

  21. Horrocks, L. A. J. Lipid Res. 9, 469–472 (1968).

    CAS  PubMed  Google Scholar 

  22. Rouser, G., Fleischer, S. & Jamamoto, A. Lipids 5, 494–496 (1970).

    Article  CAS  Google Scholar 

  23. Clarke, N. G. & Dawson, R. M. C. Biochem. J. 195, 301–306 (1981).

    Article  CAS  Google Scholar 

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Heymans, H., Schutgens, R., Tan, R. et al. Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome). Nature 306, 69–70 (1983). https://doi.org/10.1038/306069a0

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