Mechanisms of Pulmonary Lesions in TSC LAM

Abstract

Tuberous sclerosis complex (TSC) is a rare genetic disease affecting multiple organs and systems including lung. Lymphangioleiomyomatosis (LAM) is a major clinical manifestation of TSC lung disease. The pathogenic mechanisms underlying LAM pulmonary lesions (cysts and nodules) remain unclear, and development of animal models that mimic LAM pathogenic process is the major goal of this project. Using state of the art technology, we have successfully generated a mouse model in which Tsc2 genetic deletion can be induced specifically in lung mesenchymal cells. We find that the lung-specific Tsc2 mutant mice have abnormal development of alveoli and lung cysts, followed by proliferative nodular formation in adulthood. Using this model, we have quantitatively and qualitatively analyzed the dynamic changes in lung alveolar growth and cystic formation. The potential mechanisms underlying cystic phenotype have been dissected at the cellular and molecular levels. Furthermore, the lung perivascular mesenchymal cells with Tsc2 deletion are found to be the key cell type contributing to the nodular lesions. The cell heterogeneity of the lung nodules in the Tsc2 conditional knockout mice have also been defined. Finally, Tsc2-null mouse lung mesenchymal stem cell culture has bene established, and these cells are invasive and capable of anchorage-independent growth in vitro, which are the features of tumor cells.

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Document Details

Document Type
Technical Report
Publication Date
Jul 01, 2021
Accession Number
AD1162816

Entities

People

  • Wei Shi

Organizations

  • Children's Hospital Los Angeles

Tags

DTIC Thesaurus Topics

  • Biomedical Research
  • Cell Lineage
  • Cell Physiological Processes
  • Cells
  • Department Of Defense
  • Diseases And Disorders
  • Electronic Cigarettes
  • Endothelial Cells
  • Epithelial Cells
  • Genetics
  • Health Services
  • Hospitals
  • Lung Diseases
  • Medical Personnel
  • Muscle Cells
  • Smooth Muscle
  • Stem Cells

Fields of Study

  • Biology
  • Medicine

Readers

  • Aquatic Ecology
  • Immunology and Pathology
  • Molecular Biology and Genetics

Technology Areas

  • Biotechnology