TY - JOUR
T1 - Genetic disorders of adipose tissue development, differentiation, and death
AU - Agarwal, Anil K.
AU - Garg, Abhimanyu
PY - 2006
Y1 - 2006
N2 - Lack of adipose tissue, either complete or partial, is the hallmark of disorders known as lipodystrophies. Patients with lipodystrophies suffer from metabolic complications similar to those associated with obesity, including insulin resistance, type 2 diabetes, hypertriglyceridemia, and hepatic steatosis. The loss of body fat in inherited lipodystrophies can be caused by defects in the development and/or differentiation of adipose tissue as a consequence of mutations in a number of genes, including PPARG (encoding a nuclear hormone receptor), AGPAT2 (encoding an enzyme involved in the biosynthesis of triglyceride and phospholipids), AKT2 (encoding a protein involved in insulin signal transduction), and BSCL2 (encoding seipin, whose role in the adipocyte biology remains unclear). The loss of body fat can also be caused by the premature death of adipocytes due to mutations in lamin A/C, nuclear lamina proteins, and ZMPSTE24, which modifies the prelamin A posttranslationally. In this review, we focus on the molecular basis of inherited lipodystrophies as they relate to adipocyte biology and their associated phenotypic manifestations.
AB - Lack of adipose tissue, either complete or partial, is the hallmark of disorders known as lipodystrophies. Patients with lipodystrophies suffer from metabolic complications similar to those associated with obesity, including insulin resistance, type 2 diabetes, hypertriglyceridemia, and hepatic steatosis. The loss of body fat in inherited lipodystrophies can be caused by defects in the development and/or differentiation of adipose tissue as a consequence of mutations in a number of genes, including PPARG (encoding a nuclear hormone receptor), AGPAT2 (encoding an enzyme involved in the biosynthesis of triglyceride and phospholipids), AKT2 (encoding a protein involved in insulin signal transduction), and BSCL2 (encoding seipin, whose role in the adipocyte biology remains unclear). The loss of body fat can also be caused by the premature death of adipocytes due to mutations in lamin A/C, nuclear lamina proteins, and ZMPSTE24, which modifies the prelamin A posttranslationally. In this review, we focus on the molecular basis of inherited lipodystrophies as they relate to adipocyte biology and their associated phenotypic manifestations.
KW - Acyltransferases
KW - AKT2
KW - Lamins
KW - Mandibuloacral dysplasia
KW - PPAR gamma
KW - Zinc metalloproteinase
UR - http://www.scopus.com/inward/record.url?scp=33750310241&partnerID=8YFLogxK
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U2 - 10.1146/annurev.genom.7.080505.115715
DO - 10.1146/annurev.genom.7.080505.115715
M3 - Article
C2 - 16722806
AN - SCOPUS:33750310241
SN - 1527-8204
VL - 7
SP - 175
EP - 199
JO - Annual Review of Genomics and Human Genetics
JF - Annual Review of Genomics and Human Genetics
ER -