Approaches to studies on peroxisome biogenesis and human peroxisome-deficient disorders

The peroxisome is a ubiquitous intracellular organelle bounded by a unit membrane in eukaryotes, and functioning in a wide variety of metabolic pathways including the P-oxidation of very long chain fatty acids and the biosynthesis of ether-linked glycerolipids such as plasmalogens.' Peroxisomes are formed by division of pre-existing peroxisomes after post-translational import of newly synthesized proteins.(2,3) Peroxisomal proteins, including membrane polypeptides, are synthesized on free polyribosomes in the cytosol, mostly at the final sizes, and post-translationally translocated to peroxisomes.(2) Investigations of peroxisome biogenesis and peroxisomal disorders have progressed tremendously in the last decade, including the identification of peroxisome targeting signals, isolation of many genes essential for peroxisome assembly, and the discovery of the primary defects in several peroxisomal diseases. This paper reviews our recent approaches to studying peroxisome biogenesis and pathogenic genes of peroxisomal disorders.