Metabolism of Very Long-Chain Fatty Acids: Genes and Pathophysiology
Biomolecules & Therapeutics
;
: 83-92, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-228921
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Esfingolipídeos
/
Carbono
/
Distribuição Tecidual
/
Doenças Desmielinizantes
/
Glicerofosfolipídeos
/
Redes e Vias Metabólicas
/
Ácidos Graxos
/
Ictiose
/
Degeneração Macular
/
Deficiência Intelectual
Idioma:
Inglês
Revista:
Biomolecules & Therapeutics
Ano de publicação:
2014
Tipo de documento:
Artigo
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