出版社：American Society for Biochemistry and Molecular Biology
摘要：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 γ 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.
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