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32 - Peroxisomal disorders

Published online by Cambridge University Press:  31 July 2009

By
Jeffrey Kane  and
E. Steve Roach
Edited by
E. Steve Roach  and
Van S. Miller
Jeffrey Kane
Affiliation:
Specialty for Children, Austin, Texas, USA
E. Steve Roach
Affiliation:
Wake Forest University School of Medicine, Winston-Salem, NC, USA
E. Steve Roach
Affiliation:
Wake Forest University, North Carolina
Van S. Miller
Affiliation:
University of Texas Southwestern Medical Center, Dallas
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Summary

Introduction

Peroxisomes are small granular organelles surrounded by a single membrane. Johannes A. G. Rhodin first described these structures in the mouse kidney in his 1954 PhD thesis (Moser, 1988). The proteins which form the peroxisome are derived from nuclear genes and synthesized in their final configuration by free polyribosomes. The peroxisomal enzymes are marked for transfer to the peroxisome by specific sequences of amino acids that are attached to the proteins during translation. These are named the peroxismal targeting sequences (PTS), and so far two such sequences (termed PTS-1 and PTS-2) have been identified. For each sequence there is a specific receptor on the peroxisomal membrane that binds to a targeting sequence and facilitates the transport of the protein across the peroxisomal membrane.

Peroxisomal disorders may result from impaired peroxisome assembly or defective protein importation. Peroxisome biogenesis disorders are characterized by abnormal or absent peroxisomal structure and by the loss of multiple peroxisomal functions. Examples include Zellweger syndrome and neonatal adrenoleukodystrophy (Baumgartner et al., 1998). Peroxisomal disorders such as X-linked adrenoleukodystrophy, Refsum disease, and Sjögren–Larsson syndrome result from a mutation affecting a single peroxisomal protein with loss of a single peroxisome function. Rhizomelic chondrodysplasia punctata (RCDP) can fit into either category; it usually results from a peroxisome biogenesis disorder but sometimes stems from one of two single enzyme defects. At least 20 disorders are now attributed to peroxisome abnormalities.

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Neurocutaneous Disorders , pp. 266 - 276
Publisher: Cambridge University Press
Print publication year: 2004

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  • Peroxisomal disorders
    • By Jeffrey Kane, Specialty for Children, Austin, Texas, USA, E. Steve Roach, Wake Forest University School of Medicine, Winston-Salem, NC, USA
  • Edited by E. Steve Roach, Wake Forest University, North Carolina, Van S. Miller, University of Texas Southwestern Medical Center, Dallas
  • Book: Neurocutaneous Disorders
  • Online publication: 31 July 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511545054.034
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  • Peroxisomal disorders
    • By Jeffrey Kane, Specialty for Children, Austin, Texas, USA, E. Steve Roach, Wake Forest University School of Medicine, Winston-Salem, NC, USA
  • Edited by E. Steve Roach, Wake Forest University, North Carolina, Van S. Miller, University of Texas Southwestern Medical Center, Dallas
  • Book: Neurocutaneous Disorders
  • Online publication: 31 July 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511545054.034
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  • Peroxisomal disorders
    • By Jeffrey Kane, Specialty for Children, Austin, Texas, USA, E. Steve Roach, Wake Forest University School of Medicine, Winston-Salem, NC, USA
  • Edited by E. Steve Roach, Wake Forest University, North Carolina, Van S. Miller, University of Texas Southwestern Medical Center, Dallas
  • Book: Neurocutaneous Disorders
  • Online publication: 31 July 2009
  • Chapter DOI: https://doi.org/10.1017/CBO9780511545054.034
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