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The JAK-STAT Signaling Pathway01:20

The JAK-STAT Signaling Pathway

Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as  SH2...
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Assessing Cellular Target Engagement by SHP2 (PTPN11) Phosphatase Inhibitors
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Autosomal dominant PIK3R1 mutations cause SHORT syndrome.

B K Chung1, W T Gibson

  • 1Department of Medical Genetics, University of British Columbia, Vancouver, BC, V5Z 4H4, Canada; Laboratory for Obesity Genetics and Indirect Calorimetry, Child & Family Research Institute, Vancouver, BC, V5Z 4H4, Canada.

Clinical Genetics
|September 17, 2013
PubMed
Summary

Mutations in the PIK3R1 gene are linked to SHORT syndrome, a condition causing insulin resistance and lipoatrophy. This highlights the role of phosphatidylinositol 3-kinase signaling in metabolic disorders.

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Area of Science:

  • Genetics
  • Endocrinology
  • Molecular Biology

Background:

  • PIK3R1 mutations are associated with syndromic insulin resistance.
  • These mutations can lead to lipoatrophy, a condition characterized by loss of body fat.
  • Impaired phosphatidylinositol 3-kinase (PI3K) signaling is implicated in these disorders.

Purpose of the Study:

  • To investigate the genetic basis of SHORT syndrome.
  • To determine the role of PIK3R1 mutations in the development of partial lipodystrophy.
  • To elucidate the impact of impaired PI3K signaling on metabolic health.

Main Methods:

  • Genetic analysis of patients with SHORT syndrome and lipodystrophy.
  • Functional studies to assess the effect of PIK3R1 mutations on PI3K signaling.
  • Clinical evaluation of patients to characterize the syndrome's features.

Main Results:

  • Identified mutations in the PIK3R1 gene in individuals with SHORT syndrome.
  • Demonstrated that these PIK3R1 mutations impair phosphatidylinositol 3-kinase signaling.
  • Correlated PIK3R1 mutations with syndromic insulin resistance and partial lipodystrophy.

Conclusions:

  • Mutations in PIK3R1 are a cause of SHORT syndrome.
  • PIK3R1 mutations disrupt PI3K signaling, leading to metabolic abnormalities.
  • This research deepens the understanding of the genetic underpinnings of lipodystrophy and insulin resistance.