Genetic basis of congenital generalized lipodystrophy

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. Access through your institution Buy or

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technical assistance. The study was supported by the National Institute of Health grants, R01-DK54387 and M01-RR00633, and by the Southwestern Medical Foundation. AUTHOR INFORMATION AUTHORS

AND AFFILIATIONS * 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 Authors * A K Agarwal View author publications You can also search for this author inPubMed Google

Scholar * R I Barnes View author publications You can also search for this author inPubMed Google Scholar * A Garg View author publications You can also search for this author inPubMed 

Google Scholar CORRESPONDING AUTHOR Correspondence to A K Agarwal. RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE 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 Download citation * Received: 19 June 2003 * Accepted: 21

August 2003 * Published: 14 October 2003 * Issue Date: 01 February 2004 * DOI: https://doi.org/10.1038/sj.ijo.0802487 SHARE THIS ARTICLE Anyone you share the following link with will be able

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initiative KEYWORDS * lipodystrophy * AGPAT2 * BSCL2 * insulin resistance * genetic