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

@article{Savage2003HumanMS,
  title={Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-gamma.},
  author={David B Savage and Garry Tan and Carlo L Acerini and Susan A Jebb and Maura Agostini and Mark Gurnell and Rachel L Williams and A. Margot Umpleby and E. Louise Thomas and Jimmy D. Bell and Adrian K. Dixon and Fidelma Dunne and Romina Boiani and Saverio Cinti and Antonio Vidal-Puig and Fredrik Karpe and V. Krishna K. Chatterjee and Stephen O'Rahilly},
  journal={Diabetes},
  year={2003},
  volume={52 4},
  pages={910-7}
}
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… CONTINUE READING