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Mechanisms of pulmonary lesions in TSC LAM

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Technical Report,01 May 2018,30 Apr 2019

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Childrens Hospital Los Angeles Los Angeles United States

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Tuberous Sclerosis Complex TSC is a rare genetic disease affecting multiple organssystems including the lung. Lymphangioleiomyomatosis LAM is the major clinical manifestation of TSC lung disease, affecting about one third of women with TSC. Clinically, the progressive pulmonary lesions in LAM can lead to impaired respiratory function, oxygen dependence, and death. However, the related pathogenic mechanisms underlying LAM pulmonary lesions including both cysts and nodules remain unclear. One major challenge for understanding TSC-LAM pathogenesis is lack of disease models that spontaneously develop LAM-like pathology. Based on our preliminary data, we plan to establish a new genetically manipulated mouse model in which Tsc2 gene is specifically deleted in lung mesenchymal cells. Using this model, we will further test our hypothesis that loss-of-function mutation in Tsc2 and subsequent hyperactivation of mTORC1 in different lung mesenchymal cell lineages results in distinct LAM-like phenotypes such as cysts vs. nodules.

Subject Categories:

  • Medicine and Medical Research
  • Anatomy and Physiology
  • Genetic Engineering and Molecular Biology

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