Phospholipid transport and remodeling in health and disease

Abstract

Lipids not only form the backbone of biological membranes, but also serve as the source of numerous regulatory and signaling molecules. Understanding the role of lipids in the physiology of eukaryotic cell will help to identify mechanisms behind lipid-related human diseases. This minireview concentrates on two examples of human diseases associated with phospholipid remodeling and transport. The first is Barth syndrome, a severe rare genetic disorder. Barth syndrome is the first recognized human disease in which the primary causative factor is a defective remodeling of the signature mitochondrial phospholipid cardiolipin. The other example involves defects associated with lipid transfer proteins (LTPs). LTPs regulate diverse lipid-mediated cellular processes important for maintaining the specific composition of different cellular organelles. In vitro LTPs facilitate lipid transport between membranes through an aqueous environment. This article is not intended to be a comprehensive review of lipid-related human diseases; its aim is rather to stress the importance of basic lipid research in our advancement in the diagnosis and treatment of diseases.