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Peroxisomes in Humans: Metabolic Functions, Cross Talk with Other Organelles, and Pathophysiology of Peroxisomal Disorders

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Molecular Machines Involved in Peroxisome Biogenesis and Maintenance

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Abstract

Peroxisomes play a crucial role in cellular metabolism as exemplified by the devastating consequences caused by deficiencies of one or more peroxisomal enzymes in humans. The major metabolic functions of peroxisomes in humans include fatty acid beta-oxidation, etherphospholipid biosynthesis, fatty acid alpha-oxidation; glyoxylate detoxification, bile acid synthesis, l-pipecolic acid oxidation, and docosahexaenoic acid (DHA) formation. Except from the bile acids which are true metabolic end products of bile acid formation in the liver as generated in peroxisomes, all the other products of peroxisome metabolism are not true end products but require continued metabolism in other organelles to reach their final fate. This explains the crosstalk between peroxisomes and other subcellular organelles notably mitochondria and the endoplasmic reticulum. In this review we will discuss the metabolic functions of peroxisomes in humans and the crosstalk with other subcellular organelles. In addition we will discuss the pathophysiological consequences of genetic defects in peroxisome metabolism.

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Acknowledgment

The authors gratefully acknowledge the expert help of Mrs. Maddy Festen and Mr. Jos Ruiter in preparation of the manuscript. Work by the authors is supported by different grants including LeukoTreat (HEALTH-F2-2010-241622), Hersenstichting Nederland: F2012(1)-102, and MetaKids.

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Authors and Affiliations

  1. Laboratory Genetic Metabolic Diseases, Departments of Paediatrics and Clinical Chemistry, Emma Children’s Hospital, Academic Medical Center, 1105, Amsterdam, The Netherlands

    Ronald J. A. Wanders, Sacha Ferdinandusse & Hans R. Waterham

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  1. Ronald J. A. Wanders
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  2. Sacha Ferdinandusse
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  3. Hans R. Waterham
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Correspondence to Ronald J. A. Wanders .

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  1. Mauerbach, Austria

    Cecile Brocard

  2. Max F. Perutz Laboratories University of Vienna, Vienna, Austria

    Andreas Hartig

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Wanders, R.J.A., Ferdinandusse, S., Waterham, H.R. (2014). Peroxisomes in Humans: Metabolic Functions, Cross Talk with Other Organelles, and Pathophysiology of Peroxisomal Disorders. In: Brocard, C., Hartig, A. (eds) Molecular Machines Involved in Peroxisome Biogenesis and Maintenance. Springer, Vienna. https://doi.org/10.1007/978-3-7091-1788-0_3

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