Peroxisome Biogenesis Disorders

Adv Exp Med Biol. 2020:1299:45-54. doi: 10.1007/978-3-030-60204-8_4.


Peroxisomes are presented in all eukaryotic cells and play essential roles in many of lipid metabolic pathways, including β-oxidation of fatty acids and synthesis of ether-linked glycerophospholipids, such as plasmalogens. Impaired peroxisome biogenesis, including defects of membrane assembly, import of peroxisomal matrix proteins, and division of peroxisome, causes peroxisome biogenesis disorders (PBDs). Fourteen complementation groups of PBDs are found, and their complementing genes termed PEXs are isolated. Several new mutations in peroxins from patients with mild PBD phenotype or patients with phenotypes unrelated to the commonly observed impairments of PBD patients are found by next-generation sequencing. Exploring a dysfunctional step(s) caused by the mutation is important for unveiling the pathogenesis of novel mutation by means of cellular and biochemical analyses.

Keywords: CHO mutant cells; Complementation groups (CGs); Next-generation sequencing; Peroxin gene PEX; Peroxisomal biogenesis disorders (PBDs); Zellweger spectrum disorders (ZSDs).

Publication types

  • Review

MeSH terms

  • Humans
  • Mutation
  • Peroxisomal Disorders* / genetics
  • Peroxisomal Disorders* / metabolism
  • Peroxisomal Disorders* / pathology
  • Peroxisomes / metabolism
  • Peroxisomes / pathology
  • Phenotype

Supplementary concepts

  • Peroxisome biogenesis disorders