Proteus syndrome.

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

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

PROTEUS SYNDROME ,[object Object],[object Object],[object Object],I N T R O D U C T I O N

PROTEUS SYNDROME I N T R O D U C T I O N ,[object Object],( A MOSAIC DISORDER IS ONE IN WHICH CELLS WITHIN THE SAME PERSON HAVE A DIFFERENT GENETIC COMPOSITION FROM ONE ANOTHER)

AKT 1 ,[object Object],There are three isoforms of Akt: Akt 1, 2 and 3 (also known as PKBα, β and γ).

RELATIONSHIP OF SYNDROME WITH AKT-1 ,[object Object],Síndrome de Proteus Mutación AKT 1 Fosforilación del AKT 1 Favorece crecimiento excesivo de tejidos u órganos

MAIN OBJETIVE ,[object Object]

MATERIALES Y MÉTODOS The New England Journal of Medicine, 27 July 2011 ,[object Object],[object Object]

[object Object],[object Object],[object Object],[object Object],MATERIALES Y MÉTODOS The New England Journal of Medicine, 27 July 2011

[object Object],[object Object],MATERIALES Y MÉTODOS The New England Journal of Medicine, 27 July 2011

[object Object],MATERIALES Y MÉTODOS The New England Journal of Medicine, 27 July 2011

WESTERN BLOT O INMUNOBLOT ,[object Object],[object Object],[object Object],[object Object],SDS- PAGE Poliacrilámida gel electroforesis Separación proteínas de extractos celulares por electroforesis según el tamaño TÉCNICA

[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

RESULTADOS ,[object Object],[object Object],FILTROS Análisis de variaciones IDENTIFICO AKT1, c.49G->A a.a.17 Lys por Gln

RESULTADOS ,[object Object],[object Object],[object Object],[object Object]

RESULTADOS ,[object Object],[object Object],[object Object]

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

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

[object Object],[object Object],CONCLUSIONS

CONCLUSIONS ,[object Object],[object Object],The New England Journal of Medicine, 27 July 2011

Proteus syndrome.

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Proteus syndrome.