This study identified a mosaic activating mutation in the AKT1 gene associated with Proteus syndrome. Researchers sequenced DNA from tissue samples of 29 patients with Proteus syndrome and identified a recurrent somatic mutation, c.49G>A, in the AKT1 gene in 26 patients. This mutation leads to increased phosphorylation and activation of the AKT1 protein. Western blot analysis showed increased phosphorylation of AKT1 in tissues affected by Proteus syndrome. The findings link activation of the AKT1 signaling pathway through somatic mutations to overgrowth observed in Proteus syndrome patients.

1. Sara Sánchez Restrepo Catalina Urango Giraldo Facultad Ciencias de la Salud A Mosaic Activating Mutation in AKT1 a ssociated with the Proteus Syndrome Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer, Jennifer J. Johnston, Erin M. Finn, Kathryn Peters, et al. Molecular Biology

2. I N T R O D U C T I O N PROTEUS SYNDROME The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, organs, brain, and other tissues. A long with susceptibility to the development of tumors

20. DISCUSSION Author’s Name What the author said Is it related to the research findings? Kharas MG, Okabe R, Ganis JJ, et al. The AKT1 activating mutation is detrimental to hematopoiesis YES Carpten JD, Faber AL, Horn C, et al. Constitutive activation of AKT1 through Ser473 and Thr308 phosphorylation underlies the oncogenic mechanism. YES

21. DISCUSSION The New England Journal of Medicine, 27 July 2011 Author’s Name What the author said Is it related to the research findings? Happle R. More circumscribed or milder manifestation of the disorder would be associated with a later occurrence of the somatic mutation in an embryo. NO Cantley LC, Neel BG. AKT1 is activated by lossof- function mutations in PTEN. NO

24. Catalina Urango Giraldo

25. Sara Sánchez Restrepo

26. GRACIAS T H A N K S