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  • 9th International Congress on Obesity - Abstracts and Short Reports
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9th International Congress On Obesity - Abstracts and Short Reports

Genetic basis of congenital generalized lipodystrophy

International Journal of Obesity volume 28, pages 336–339 (2004)Cite this article

Abstract

Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder characterized by extreme lack of body fat and severe insulin resistance since birth. Recently, mutations have been reported in 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2) and Berardinelli–Seip congenital lipodystrophy 2 (BSCL2 or Seipin) genes in affected subjects from pedigrees linked to chromosomes 9q34 and 11q13, respectively. The AGPAT2 catalyses the acylation of the lysophosphatidic acid at the sn-2 position to form phosphatidic acid, a key intermediate in the biosynthesis of triacylglycerol and glycerophospholipids. High expression of AGPAT2 mRNA in adipose tissue compared to other isoforms suggests that the mutations might affect the adipose tissue the most. The function of BSCL2 remains unknown. Several CGL pedigrees reveal no mutation in either of the above genes and are not linked to these loci, suggesting additional genetic loci for CGL. Thus, several distinct mechanisms can lead to extreme lack of adipose tissue in humans and cause CGL.

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Acknowledgements

We thank A Osborn, RG Huet and R Butsch for illustrations and technical assistance. The study was supported by the National Institute of Health grants, R01-DK54387 and M01-RR00633, and by the Southwestern Medical Foundation.

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  1. Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, USA

    A K Agarwal, R I Barnes & A Garg

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  1. A K Agarwal
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  2. R I Barnes
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  3. A Garg
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Correspondence to A K Agarwal.

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Agarwal, A., Barnes, R. & Garg, A. Genetic basis of congenital generalized lipodystrophy. Int J Obes 28, 336–339 (2004). https://doi.org/10.1038/sj.ijo.0802487

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