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Assessing Cellular Target Engagement by SHP2 PTPN11 Phosphatase Inhibitors
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SHP2 sails from physiology to pathology.

Mylène Tajan1, Audrey de Rocca Serra1, Philippe Valet1

  • 1Institut National de la Santé et de la Recherche Médicale (INSERM), U1048, Toulouse, France; Université de Toulouse, Université Paul Sabatier, Institut des Maladies Métaboliques et Cardiovasculaires, Toulouse, France.

European Journal of Medical Genetics
|September 6, 2015
PubMed
Summary

Mutations in the PTPN11 gene cause developmental disorders like Noonan syndrome and cancers by altering SHP2 phosphatase activity. Understanding these SHP2 dysregulations is key to developing targeted therapies.

Keywords:
Functional geneticsNoonan syndromeNoonan syndrome with multiple lentiginesPTPN11Shp2Signaling

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Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • Mutations in the PTPN11 gene, encoding SHP2 (SH2 domain-containing tyrosine phosphatase 2), are linked to developmental diseases (Noonan syndrome, NS-ML) and cancers (juvenile myelomonocytic leukemia).
  • SHP2 is crucial for development and homeostasis, regulating key signaling pathways like Ras/MAPK and PI3K/AKT.

Purpose of the Study:

  • To review the structure, regulation, and molecular/physiological roles of SHP2.
  • To detail PTPN11 mutation-associated pathologies, focusing on Noonan syndrome and NS-ML.
  • To highlight recent advances in understanding the pathophysiology of SHP2-related diseases.

Main Methods:

  • Biochemical analysis of PTPN11 mutations (loss-of-function, gain-of-function, subtle defects).
  • Functional genetic studies to link SHP2 mutants to disease traits.
  • Review of existing literature on SHP2 structure, function, and associated diseases.

Main Results:

  • PTPN11 mutations lead to SHP2 dysregulation with significant pathophysiological consequences.
  • Specific SHP2 mutations are associated with distinct developmental and malignant conditions.
  • Understanding SHP2's role in Ras/MAPK and PI3K/AKT pathways is crucial for disease mechanisms.

Conclusions:

  • SHP2 dysregulation due to PTPN11 mutations underlies several human diseases.
  • Detailed knowledge of SHP2's function and mutation impacts facilitates therapeutic development.
  • This review consolidates current understanding and points to future research directions.