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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],Proteus Syndrome AKT 1 mutation AKT 1 phosphorylation  Excessive tissue and organ growth
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],MATERIALES Y MÉTODOS The New England Journal of Medicine, 27 July 2011
[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]
RESULTADOS ,[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
Catalina Urango Giraldo
Sara Sánchez Restrepo
GRACIAS T H A N K S

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Proteus Syndrome Seminar

  • 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
  • 3.
  • 4.
  • 5.  
  • 6.
  • 7.
  • 8.
  • 9.
  • 10.
  • 11.
  • 12.
  • 13.
  • 14.
  • 15.
  • 16.
  • 17.
  • 18.
  • 19.
  • 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
  • 22.
  • 23.
  • 26. GRACIAS T H A N K S