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Neuroendocrine cancer

An activating hotspot mutation in PRKACA provides clues for adrenal Cushing syndrome therapeutics

Nature Reviews Endocrinology volume 10, page 311 (2014)Cite this article

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New genetic findings might have important implications for developing therapies against adrenal Cushing syndrome. In a new study published in Science, researchers have identified a hotspot mutation in the PRKACA gene (which encodes the catalytic subunit of protein kinase A, PKA C) in sporadic adrenocortical adenomas (ACAs) that drives increased catalytic protein kinase A (PKA) function and induces expression of genes associated with tumour growth and adrenal steroidogenesis.

Adrenal Cushing syndrome most frequently results from excess production of cortisol by adrenocortical tumours (ACTs), and occurs independently from adrenocorticotropic hormone signalling. “Comprehensive understanding of the genetic deficiency in adrenal tumours is crucial for the development of novel diagnostic and therapeutic approaches,” explains Guang Ning, study leader and Chairman of the Shanghai Clinic for Endocrine and Metabolic Diseases, Rui-Jin Hospital, Shanghai, China.

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References

  1. Cao, Y. et al. Activating hotspot L205R mutation in PRKACA and adrenal Cushing's syndrome. Science 10.1126/science.1249480

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  1. Jennifer Sargent
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Sargent, J. An activating hotspot mutation in PRKACA provides clues for adrenal Cushing syndrome therapeutics. Nat Rev Endocrinol 10, 311 (2014). https://doi.org/10.1038/nrendo.2014.57

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