Complementation Analysis of Peroxisomal Diseases: Kinetics of Assembly of Peroxisomes After Fusion of Complementary Cell Lines from Patients Deficient in Peroxisomes

  • S. Brul
  • E. A. C. Wiemer
  • A. Strijland
  • H. S. A. Heymans
  • R. B. H. Schutgens
  • H. Van Den Bosch
  • A. W. Schram
  • R. J. A. Wanders
  • A. Westerveld
  • J. M. Tager
Part of the NATO ASI Series book series (NSSA, volume 150)


In 1973, Sidney Goldfischer and his colleagues published their seminal paper [l] in which they reported that peroxisomes are deficient in liver and kidney of patients with the cerebro-hepato-renal (Zellweger) syndrome. In fact, in the two patients initially studied, morphologically distinguisable peroxisomes appeared to be totally lacking [l]. These observations, which were later confirmed in many laboratories, pointed to a hitherto unsuspected situation: a genetic disease in man in which a complete organelle is deficient. Borst [2] subsequently suggested that the pathogenesis of the Zellweger syndrome might be due simply to the absence of peroxisomes (see also Ref. 3), a postulate now amply validated by the realization of the essential role of peroxisomes in a number of metabolic pathways. Indeed, the deficiency of peroxisomes in the Zellweger syndrome is accompanied by a generalized impairment of peroxisomal functions, due to a deficiency of many peroxisomal enzymes [4–9]. The metabolic pathways in which peroxisomes play an essential role are listed in Table I.


Phytanic Acid Complementation Group Pipecolic Acid Zellweger Syndrome Peroxisomal Enzyme 
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Copyright information

© Plenum Press, New York 1988

Authors and Affiliations

  • S. Brul
    • 1
  • E. A. C. Wiemer
    • 1
  • A. Strijland
    • 1
  • H. S. A. Heymans
    • 2
  • R. B. H. Schutgens
    • 2
  • H. Van Den Bosch
    • 3
  • A. W. Schram
    • 1
  • R. J. A. Wanders
    • 2
  • A. Westerveld
    • 4
  • J. M. Tager
    • 1
  1. 1.Laboratory of BiochemistryUniversity of AmsterdamAmsterdamThe Netherlands
  2. 2.Department of PediatricsAcademic Medical Centre of the University of AmsterdamAmsterdamThe Netherlands
  3. 3.Laboratory of BiochemistryUniversity of UtrechtUtrechtThe Netherlands
  4. 4.Division of Cell Biology and GeneticsErasmus University RotterdamRotterdamThe Netherlands

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