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Cushing's disease

Protein kinase cAMP-dependent catalytic-a (PRKACA) L205R

Genetic sequencing studies identified an activating PRKACA mutation in Cushing's disease that could help model the disorder. In 49 adrenocortical tumor samples from patients with Cushing's disease, the somatic PRKACA L205R mutation was found in 55.1% of tumors and specifically in 69.1% of the benign adrenocortical adenoma tumor subset. In human cells, overexpression of PRKACA L205R increased phosphorylation of PRKACA substrates compared with wild-type PRKACA expression, suggesting it is an activating mutation. Next steps include developing a transgenic mouse model of Cushing's disease based on the findings.

SciBX 7(17); doi:10.1038/scibx.2014.500
Published online May 1, 2014

Findings unpatented; available for licensing to diagnose subtypes of Cushing's disease

Cao, Y. et al. Science; published online April 3, 2014;
Contact: Guang Ning, Shanghai Jiao-Tong University School of Medicine, Shanghai, China
Contact: Weiqing Wang, same affiliation as above
Contact: Jun Wang, BGI Shanghai and BGI Shenzhen, Shenzhen, China