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Inborn errors of cytoplasmic triglyceride metabolism

  • Complex Lipids
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Triglyceride (TG) synthesis, storage, and degradation together constitute cytoplasmic TG metabolism (CTGM). CTGM is mostly studied in adipocytes, where starting from glycerol-3-phosphate and fatty acyl (FA)-coenzyme A (CoA), TGs are synthesized then stored in cytoplasmic lipid droplets. TG hydrolysis proceeds sequentially, producing FAs and glycerol. Several reactions of CTGM can be catalyzed by more than one enzyme, creating great potential for complex tissue-specific physiology. In adipose tissue, CTGM provides FA as a systemic energy source during fasting and is related to obesity. Inborn errors and mouse models have demonstrated the importance of CTGM for non-adipose tissues, including skeletal muscle, myocardium and liver, because steatosis and dysfunction can occur. We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and “Jordan’s anomaly” of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan’s anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance). Two inborn errors of glycerol metabolism are known: glycerol kinase (GK, causing pseudohypertriglyceridemia) and glycerol-3-phosphate dehydrogenase (GPD1, childhood hepatic steatosis). Mouse models often resemble human phenotypes but may diverge markedly. Inborn errors have been described for less than one-third of CTGM enzymes, and new phenotypes may yet be identified.

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Abbreviations

ATGL:

Adipose triglyceride lipase

BAT:

Brown adipose tissue

CTGM:

Cytoplasmic TG metabolism

DG:

Diglycerides

ER:

Endoplasmic reticulum

FA:

Fatty acid

G3P:

Glycerol-3-phosphate

HSL:

Hormone-sensitive lipase

LD:

Lipid droplet

LPA:

Lysophosphatidic acid

MG:

Monoglycerides

MGL:

Monoglyceride lipase

NLSD:

Neutral lipid storage disease

NLSDI:

NLSD with ichthyosis

NLSDM:

NLSD with myopathy

PA:

Phosphatidic acid

PLIN1:

Perilipin 1

TG:

Triglycerides

WAT:

White adipose tissue.

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Acknowledgments

This work was supported by Canadian Institutes for Health Research Grants 221920 and 178978 to GM.

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Authors and Affiliations

  1. Division of Medical Genetics, Department of Pediatrics, Université de Montréal and CHU Sainte-Justine, 3175 Côte Sainte-Catherine, Montreal, QC, H3T 1C5, Canada

    Jiang Wei Wu, Hao Yang, Shu Pei Wang, Catherine Brunel-Guitton & Grant A. Mitchell

  2. Laboratory of Animal Fat Deposition and Muscle Development, College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, 712100, China

    Hao Yang

  3. Department of Molecular and Cellular Medicine, Department of Biochemistry and Biophysics, Texas A&M University, College Station, TX, 77843-1114, USA

    Krishnakant G. Soni

  4. Division of Medical Genetics, CHU Sainte-Justine, 3175 Chemin de la Côte Sainte-Catherine, Montréal, Québec, H3T 1C5, Canada

    Grant A. Mitchell

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  1. Jiang Wei Wu
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  2. Hao Yang
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Correspondence to Grant A. Mitchell.

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Communicated by: Matthias Baumgartner

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Wu, J.W., Yang, H., Wang, S.P. et al. Inborn errors of cytoplasmic triglyceride metabolism. J Inherit Metab Dis 38, 85–98 (2015). https://doi.org/10.1007/s10545-014-9767-7

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