The Genetic Spectrum of Lipodystrophies: The Realm of PPARγ, AGPAT2 and Beyond

Over the past 40 years the global prevalence of obesity has increased dramatically. With the emergence of the global obesity epidemic and its related metabolic complications, including insulin resistance, type 2 diabetes mellitus, and dyslipidemia, there is an urgent need to dissect the molecular determinants and mechanisms underlying adipose tissue development, function, maintenance, and distribution.
In the current thesis patients suffering from genetic lipodystrophies, a heterogenous group of extremely rare adipose tissue distribution disorders caused by mutations in a single gene, provide a unique opportunity to study the significance of adipose tissue distribution and the consequences of adipose tissue redistribution. Lipodystrophies are characterized by a selective loss of functional adipose tissue depots. Many metabolic complications observed in individuals with obesity are common in patients with lipodystrophy. Therefore, lipodystrophies and obesity might be linked by similar or identical underlying molecular mechanisms.