PerspectiveMedicine

A unified cause for adrenal Cushing's syndrome

Science  23 May 2014:
Vol. 344, Issue 6186, pp. 804-805
DOI: 10.1126/science.1254901

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Summary

In the cartoon adventure Falling Hare, aviator Bugs Bunny is vexed by a series of aerial mishaps, causing his airplane to crash. After spending the episode trying to understand the origin of his problem, Bugs hits on the obvious solution: a gremlin. Four papers—two on pages 913 and 917 in this issue of Science (1, 2), a third in the New England Journal of Medicine (3), and a fourth in Nature Genetics (4), all from different groups—describe the use of whole exome sequencing (WES) to reach similar conclusions regarding the molecular origin of cortisol-producing adrenocortical adenomas. Just like Bugs' sudden recognition of the gremlin's underlying role in his predicament, the surprisingly consistent answer to the question of the underlying cause of these tumors is no longer obscure; rather, it is a mutation in the catalytic subunit of the signaling subunit of the cyclic-AMP (cAMP)–dependent protein kinase, protein kinase A (PKA).