Lipodystrophy: a paradigm for elucidating pathogenic mechanisms in the metabolic syndrome

Obesity is a major global health problem, primarily due to strong links between the condition and a range of highly prevalent metabolic disorders, including insulin resistance, type 2 diabetes, fatty liver disease, dyslipidaemia and polycystic ovary syndrome. Dr Savage's lab focuses on obesity's relationship to metabolic disease. Uniquely, the lab's research focuses on patients with inherited forms of lipodystrophy, a rare disease in which people lack all or some body fat. Paradoxically, these patients manifest almost exactly the same metabolic problems as obese people. These patients are being studied to assist in identifying the genetic basis of their disease, to enable a precise diagnosis, and to facilitate genetic screening in the relatives of those with the disease. Additionally, the identification of these novel human monogenic diseases often leads to novel insights into the biology and physiological relevance of the genes or proteins involved, and what is found in a rare disease may be very relevant to more prevalent conditions in the metabolic syndrome.