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Originally published In Press as doi:10.1194/jlr.R700004-JLR200 on March 20, 2007

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Journal of Lipid Research, Vol. 48, 1433-1444, July 2007
Copyright © 2007 by American Society for Biochemistry and Molecular Biology

Thematic Review

Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism

Robert A. Hegele1, Tisha R. Joy, Salam A. Al-Attar and Brian K. Rutt

Robarts Research Institute and Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada N6A 5K8

Published, JLR Papers in Press, March 20, 2007.

1 To whom correspondence should be addressed. e-mail: hegele{at}robarts.ca

The lipodystrophies are characterized by loss of adipose tissue in some anatomical sites, frequently with fat accumulation in nonatrophic depots and ectopic sites such as liver and muscle. Molecularly characterized forms include Dunnigan-type familial partial lipodystrophy (FPLD), partial lipodystrophy with mandibuloacral dysplasia (MAD), Berardinelli-Seip congenital generalized lipodystrophy (CGL), and some cases with Barraquer-Simons acquired partial lipodystrophy (APL). The associated mutant gene products include 1) nuclear lamin A in FPLD type 2 and MAD type A; 2) nuclear lamin B2 in APL; 3) nuclear hormone receptor peroxisome proliferator-activated receptor {gamma} in FPLD type 3; 4) lipid biosynthetic enzyme 1-acylglycerol-3-phosphate O-acyltransferase 2 in CGL type 1; 5) integral endoplasmic reticulum membrane protein seipin in CGL type 2; and 6) metalloproteinase ZMPSTE24 in MAD type B. An unresolved question is whether metabolic disturbances are secondary to adipose repartitioning or result from a direct effect of the mutant gene product. Careful analysis of clinical, biochemical, and imaging phenotypes, using an approach called "phenomics," reveals differences between genetically stratified subtypes that can be used to guide basic experiments and to improve our understanding of common clinical entities, such as metabolic syndrome or the partial lipodystrophy syndrome associated with human immunodeficiency virus infection.

Supplementary key words fatty acid • metabolism • obesity • type 2 diabetes • insulin resistance • dyslipidemia • genetics • medical imaging • laminopathy • nuclear hormone receptors


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