Peroxisome Biogenesis Disorders

Biochim Biophys Acta. 2006 Dec;1763(12):1733-48. doi: 10.1016/j.bbamcr.2006.09.010. Epub 2006 Sep 14.

Abstract

Defects in PEX genes impair peroxisome assembly and multiple metabolic pathways confined to this organelle, thus providing the biochemical and molecular bases of the peroxisome biogenesis disorders (PBD). PBD are divided into two types--Zellweger syndrome spectrum (ZSS) and rhizomelic chondrodysplasia punctata (RCDP). Biochemical studies performed in blood and urine are used to screen for the PBD. DNA testing is possible for all of the disorders, but is more challenging for the ZSS since 12 PEX genes are known to be associated with this spectrum of PBD. In contrast, PBD-RCDP is associated with defects in the PEX7 gene alone. Studies of the cellular and molecular defects in PBD patients have contributed significantly to our understanding of the role of each PEX gene in peroxisome assembly.

Publication types

  • Review

MeSH terms

  • Amino Acid Sequence
  • Chondrodysplasia Punctata, Rhizomelic / genetics
  • Chondrodysplasia Punctata, Rhizomelic / metabolism
  • Humans
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism
  • Molecular Sequence Data
  • Peroxisomal Disorders / diagnosis
  • Peroxisomal Disorders / genetics
  • Peroxisomal Disorders / metabolism*
  • Peroxisomes / genetics
  • Peroxisomes / metabolism*
  • Pipecolic Acids / metabolism
  • Plasmalogens / metabolism
  • Refsum Disease, Infantile / genetics
  • Refsum Disease, Infantile / metabolism
  • Zellweger Syndrome / genetics
  • Zellweger Syndrome / metabolism

Substances

  • Membrane Proteins
  • Pipecolic Acids
  • Plasmalogens
  • pipecolic acid