Cited by 303Lipid metabolism and biosynthesisMetabolism and Genetic DisordersFatty Acid Research and Health

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

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Sassa, Takayuki, Kihara, Akio·2014·Biomolecules & Therapeutics

DOI 10.4062/biomolther.2014.017PMC PMC3975470

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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.

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Fig. 1. Human FA elongation pathways. The FA elongation pathways of SFAs, MUFAs and PUFAs are illustrated. ELOVL isozymes (E1-E7) responsible for each elongation step are indicated. Parentheses denote ELOVLs that exhibit weak activity toward the indicated substrates. Δ5, Δ6 and Δ9 represent Δ5-, Δ6- and Δ9-desaturase, respectively. FA: fatty acid; SFA: saturated FA; MUFA: monounsaturated FA; PUFA: polyunsaturated FA.CC BY-NC · PubMed Central

Fig. 2. Mammalian FA elongation cycle. The FA elongation cycle and enzymes involved in each step are illustrated. In each cycle, acyl-CoA incorporates two carbon units from malonyl-CoA.CC BY-NC · PubMed Central

Fig. 3. FA compositions of SM. FA compositions of SM in indicated mouse tissues determined by liquid chromatography-mass spectrometry analysis are illustrated. SM: sphingomyelin; BAT: brown adipose tissue; WAT: white adipose tissue.CC BY-NC · PubMed Central

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Authors: Sassa, T., & Kihara, A.
Affiliations: Hokkaido University (JP)
Corresponding author: Kihara, Akio
ORCID: Sassa, Takayuki
Kihara, Akio
Venue: Biomolecules & Therapeutics
Publisher: The Korean Society of Applied Pharmacology
Published: 2014-03-31
Volume: 22
Issue: 2
Pages: 83-92
ISSN: 1976-9148 (ISSN-L)
2005-4483
DOI: 10.4062/biomolther.2014.017
PMC: PMC3975470
OpenAlex: W2009332633
Cited by: 302
References: 95
Citations by year: 2026: 18 · 2025: 27 · 2024: 34 · 2023: 35 · 2022: 22 · 2021: 46 · 2020: 32 · 2019: 23 · 2018: 28 · 2017: 17 · 2016: 11 · 2015: 4 · 2014: 4
FWCI: 1.03
Type: journal article
Language: en
Open access: green
europepmc.org
Licence: other-oa
creativecommons.org/licenses/by-nc/3.0 (tdm)
Locations: Biomolecules & Therapeutics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion, other-oa)
PubMed Central (publishedVersion, cc-by-nc)
PubMed (publishedVersion)
Funders: Japan Society for the Promotion of Science (23370057, 24590073)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Lipid metabolism and biosynthesis
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Health Sciences › Nursing › Nutrition and Dietetics › Fatty Acid Research and Health
Keywords: very long chain fatty acids, fatty acid synthesis, fatty acid degradation, ichthyosis, macular degeneration, myopathy, demyelination, lipid mediators, sphingolipids, tissue distribution

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

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