NF1 Signal Transduction and Vascular Dysfunction

Abstract

We have made strong progress on each of the proposed Aims. We have continued our evaluation of the signals and mechanisms involved in dysfunctional morphogenesis with strong evidence both chemical and genetic accumulating that the PI3Kinase and mTOR axis play a critical role. While this is associated with proliferative augmentation it is not clear that enhanced proliferation is required. Rapmycin was surprisingly unique in its potency to inhibit the NF1 induced mTOR activation and to reverse the dysfunctional morphogenesis. Data continues to accumulate suggesting an interplay between TGFb-related signaling and the morphogenic defects seen following loss of NF1. Finally the development of a novel mouse model of induced loss of NF1 in the adult mouse vasculature on a haploinsufficient background led to a surprise finding of rapid development of leukemia. This may suggest important control of the HSC niche by NF1.

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Document Details

Document Type
Technical Report
Publication Date
May 01, 2015
Accession Number
ADA620935

Entities

People

  • Kevin Pumiglia

Organizations

  • Albany Medical College

Tags

DTIC Thesaurus Topics

  • Blood
  • Blood Cells
  • Blood Vessels
  • Bone Marrow
  • Cardiovascular Diseases
  • Cardiovascular System
  • Cells
  • Culture Techniques
  • Diseases And Disorders
  • Endothelial Cells
  • Genetic Engineering
  • Genetics
  • Growth Factors
  • Leukocytes
  • Stem Cells
  • Tissues
  • Vascular Endothelium

Readers

  • Immunology and Pathology
  • Molecular Biology and Genetics
  • Molecular and Cellular Biology

Technology Areas

  • Biotechnology