Lipidomics of peroxisomal disorders

Abstract

Peroxisomes are cytoplasmic organelles that play a key role in metabolic and synthetic processes of various lipids. Peroxisomal disorders are caused by defects in peroxisome biogenesis or a peroxisomal single enzyme, and lead to multiple pathological features such as enlarged ventricles, demyelination, hearing loss and psychomotor retardation. Specific lipid profiles are observed for each peroxisomal disorder, which reflects the abnormal process in metabolism or synthesis of lipids. Therefore, lipid analysis of biological samples (e.g. blood plasma and fibroblasts) from patients is essential for the precise diagnosis and identification of responsible genes of peroxisomal disorders. Recent advances in mass spectrometry have enabled both identification and simultaneous quantification of a large number of lipid species. In this review, we introduce the principles of ‘lipidomics’ and the latest research using the lipidomic approach to study peroxisomal disorders.