Biomol Ther.  2014 Mar;22(2):83-92.

Metabolism of Very Long-Chain Fatty Acids: Genes and Pathophysiology

• Sassa T
• Kihara A

Abstract

Fatty acids (FAs) are highly diverse in terms of carbon (C) chain-length and number of double bonds. FAs with C>20 are called very long-chain fatty acids (VLCFAs). VLCFAs are found not only as constituents of cellular lipids such as sphingolipids and glycerophospholipids but also as precursors of lipid mediators. Our understanding on the function of VLCFAs is growing in parallel with the identification of enzymes involved in VLCFA synthesis or degradation. A variety of inherited diseases, such as ichthyosis, macular degeneration, myopathy, mental retardation, and demyelination, are caused by mutations in the genes encoding VLCFA metabolizing enzymes. In this review, we describe mammalian VLCFAs by highlighting their tissue distribution and metabolic pathways, and we discuss responsible genes and enzymes with reference to their roles in pathophysiology.

Keyword

Sphingolipids; Glycerophospholipids; ELOVL; Ceramide; Ichthyosis; Leukodystrophy

MeSH Terms

Carbon
Demyelinating Diseases
Fatty Acids*
Glycerophospholipids
Ichthyosis
Intellectual Disability
Macular Degeneration
Metabolic Networks and Pathways
Metabolism*
Muscular Diseases
Sphingolipids
Tissue Distribution
Carbon
Fatty Acids
Glycerophospholipids
Sphingolipids