Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma.

Journal article

We previously reported a syndrome of severe hyperinsulinemia and early-onset hypertension in three patients with dominant-negative mutations in the nuclear hormone receptor peroxisome proliferator-activated receptor (PPAR)-gamma. We now report the results of further detailed pathophysiological evaluation of these subjects, the identification of affected prepubertal children within one of the original families, and the effects of thiazolidinedione therapy in two subjects. These studies 1) defi...

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Authors: Savage, D; Tan, G; Acerini, C; Jebb, SA; Agostini, M

• Publication status: Published
• Journal: Diabetes
• Volume: 52
• Issue: 4
• Pages: 910-917
• Publication date: 2003-04-01
• DOI: 10.2337/diabetes.52.4.910
• EISSN: 1939-327X
• ISSN: 0012-1797
• Language: English
• Keywords: Triglycerides; Female; Receptors, Cytoplasmic and Nuclear; Metabolic Syndrome X; Fatty Liver; Mutation; Neoplasm Proteins; Adipose Tissue; Thiazoles; Thiazolidinediones; Abdomen; Middle Aged; Carrier Proteins; Male; Liver; Gene Expression; Body Composition; Tumor Suppressor Proteins; Magnetic Resonance Imaging; Hyperlipidemias; Humans; Insulin Resistance; Fatty Acids; Fatty Acid-Binding Proteins; Fatty Acids, Nonesterified; Phenotype; Transcription Factors; Adult; Kinetics