Endocrine Abstracts

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...