TY - JOUR
T1 - Congenital generalized lipodystrophy
T2 - Significance of triglyceride biosynthetic pathways
AU - Agarwal, Anil K.
AU - Garg, Abhimanyu
N1 - Funding Information:
We apologize to those authors whose work could not be cited because of space constraints. The study was supported in part by the National Institutes of Health grants, R01-DK54387 and M01-RR00633, and by the Southwestern Medical Foundation. We thank J. Darling and J.T.B. Brockelbank of St James University Hospital, Leeds, UK for Fig. 1 , and A. Osborn, R.G. Huet and W. Dinges for illustrations.
PY - 2003/7
Y1 - 2003/7
N2 - Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by marked lack of body fat since birth, which results in striking muscular appearance. Patients develop extreme insulin resistance and its complications, such as diabetes, hyperlipidemia and fatty liver. Mutations in the BSCL2 (which encodes seipin, a protein of unknown function) and AGPAT2 (which encodes 1-acylglycerol-3-phosphate O-acyltransferase 2) genes have been reported in patients with CGL. AGPAT2 is a key enzyme involved in triglyceride and phospholipid biosynthesis and, thus, the discovery of AGPAT2 mutations has heightened interest in the biochemical pathways of triglyceride synthesis and their implications in human physiology and in the pathophysiology of obesity, lipodystrophies and other adipose tissue disorders. All enzymes involved in triglyceride synthesis, including AGPAT, have several known isoforms encoded by different genes. Assuming different substrate specificities of these enzymes, the human body might have many forms of triglycerides and phospholipids. Here, we discuss the significance of these in energy storage, in addition to the normal functioning of cell membranes.
AB - Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by marked lack of body fat since birth, which results in striking muscular appearance. Patients develop extreme insulin resistance and its complications, such as diabetes, hyperlipidemia and fatty liver. Mutations in the BSCL2 (which encodes seipin, a protein of unknown function) and AGPAT2 (which encodes 1-acylglycerol-3-phosphate O-acyltransferase 2) genes have been reported in patients with CGL. AGPAT2 is a key enzyme involved in triglyceride and phospholipid biosynthesis and, thus, the discovery of AGPAT2 mutations has heightened interest in the biochemical pathways of triglyceride synthesis and their implications in human physiology and in the pathophysiology of obesity, lipodystrophies and other adipose tissue disorders. All enzymes involved in triglyceride synthesis, including AGPAT, have several known isoforms encoded by different genes. Assuming different substrate specificities of these enzymes, the human body might have many forms of triglycerides and phospholipids. Here, we discuss the significance of these in energy storage, in addition to the normal functioning of cell membranes.
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U2 - 10.1016/S1043-2760(03)00078-X
DO - 10.1016/S1043-2760(03)00078-X
M3 - Review article
C2 - 12826327
AN - SCOPUS:0038607416
SN - 1043-2760
VL - 14
SP - 214
EP - 221
JO - Trends in Endocrinology and Metabolism
JF - Trends in Endocrinology and Metabolism
IS - 5
ER -