Article
Mutations in the amino-terminal region of proopiomelanocortin (POMC) in patients with early-onset obesity impair POMC sorting to the regulated secretory pathway.
The Journal of clinical endocrinology and metabolism - 1 Nov 2008
Creemers John W M, Lee Yung Seng, Oliver Robert L, Bahceci Mithat, Tuzcu Alpaslan, Gokalp Deniz, Keogh Julia, Herber Stefan, White Anne, O'Rahilly Stephen, Farooqi I Sadaf
Abstract excerpt
CONTEXT: Mutations in the proopiomelanocortin (POMC) gene that impair the synthesis or structure of POMC-derived peptides predispose to human obesity. OBJECTIVE: Our objective was to identify and characterize novel mutations in the POMC gene found in patients with early-onset obesity. DESIGN AND PATIENTS: The POMC gene was screened in 500 patients with severe early-onset obesity. The biosynthesis, processing,...
Topics
- Adipocytes
- Animals
- Body Composition
- Body Mass Index
- Case-Control Studies
- Cross-Sectional Studies
- Diabetes Mellitus, Type 2
- Female
- Glucose Tolerance Test
- Humans
- Lipids
- Male
- Middle Aged