Endocrine Abstracts

A defining trait of modern civilization is easy access to food combined with minimum energy expenditure. This unbalance is responsible for the emergence of considerable wide-spread obesity and its harrowing cortege of life-threatening complications such as type-2 diabetes. Rare genetic disorders that manifest with obesity are of great value in discovering new pieces of the jigsaw on the origins of obesity as they allow us to link a phenotype with a specific protein or group of...

Long considered as a vestige of evolution, the primary cilium has recently emerged as a crucial orgnalle in the regulation of cell function. Ciliated cells are ubiquitously present in the organism and until recently only two cellular types were considered as unciliated cells, namely the adipocyte and the hepatocyte. An in vitro approach evidenced that the preadipocyte was transiently ciliated during its terminal differentiation phase and that the primary cilium was acti...

Background: ALMS1 is a 461kDa protein that, when mutated, causes Alström syndrome (AS). AS is a rare autosomal recessive disorder characterized by childhood obesity and early-onset insulin-resistant diabetes, amongst other features. Studies using primary human adipocytes revealed that ALMS1 is critical for insulin-regulated glucose transport. The predilection for insulin resistance and T2DM in AS children seems to reflect a hitherto uncharacterized role of ALMS1 in the in...