Metabolism of Very Long-Chain Fatty Acids: Genes and Pathophysiology.
- Author:
Takayuki SASSA
1
;
Akio KIHARA
Author Information
1. Laboratory of Biochemistry, Faculty of Pharmaceutical Sciences, Hokkaido University, Kita-ku, Sapporo 060-0812, Japan. kihara@pharm.hokudai.ac.jp
- Publication Type:Review
- Keywords:
Sphingolipids;
Glycerophospholipids;
ELOVL;
Ceramide;
Ichthyosis;
Leukodystrophy
- MeSH:
Carbon;
Demyelinating Diseases;
Fatty Acids*;
Glycerophospholipids;
Ichthyosis;
Intellectual Disability;
Macular Degeneration;
Metabolic Networks and Pathways;
Metabolism*;
Muscular Diseases;
Sphingolipids;
Tissue Distribution
- From:Biomolecules & Therapeutics
2014;22(2):83-92
- CountryRepublic of Korea
- Language:English
-
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.
