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Human Lipodystrophy: An Update in Molecular Genetics and Possible Mechanisms of Fat Loss

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Adipose Tissue and Adipokines in Health and Disease

Part of the book series: Nutrition and Health ((NH))

Abstract

Lipodystrophy, a disease characterized by lack of adipose tissue, is either due to genetic defects or acquired. Genetic lipodystrophies are inherited both in an autosomal dominant or recessive fashion. Several genetic loci have been identified affecting differentiation of adipose tissue or lipid storage. Although it appears counterintuitive, lack of adipose tissue results in the same clinical burden seen in subjects with obesity, chiefly, insulin resistance, hypertriglyceridemia, fatty liver, and diabetes. This implies a role for adipose tissue at the center of energy homeostasis. Study of human lipodystrophies has provided a rich trove of genetic loci which affect adipogenesis and/or lipid storage (adipose tissue dysregulation) as illustrated by mutations in AGPAT2, BSCL2, LMNA, or ZMPSTE24 genes. Thus, identifying additional genetic loci in patients with lipodystrophies will continue to be a rich source of biological material to study loss of both white and brown adipose tissues. In this review I discuss the recent findings which have occurred over the last 5 years.

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Acknowledgements

The author is supported by a grant from the National Institutes of Health R01-DK54387 and thanks Abhimanyu Garg for review, Baris Akinci for review of Table 15.1, and Katie Tunison for illustrations and copyediting of the manuscript. The author has no conflict of interest to report.

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  1. Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX, 75390, USA

    Anil K. Agarwal Ph.D.

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Correspondence to Anil K. Agarwal Ph.D. .

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  1. Department of Kinesiology and Nutrition, University of Illinois at Chicago, Chicago, Illinois, USA

    Giamila Fantuzzi

  2. Department of Kinesiology and Nutrition, University of Illinois at Chicago, Chicago, Illinois, USA

    Carol Braunschweig

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Agarwal, A.K. (2014). Human Lipodystrophy: An Update in Molecular Genetics and Possible Mechanisms of Fat Loss. In: Fantuzzi, G., Braunschweig, C. (eds) Adipose Tissue and Adipokines in Health and Disease. Nutrition and Health. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-62703-770-9_15

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  • DOI: https://doi.org/10.1007/978-1-62703-770-9_15

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