mTORC1 activation in lung mesenchyme drives sex- and age-dependent pulmonary structure and function decline

Nat Commun. 2020 Nov 6;11(1):5640. doi: 10.1038/s41467-020-18979-4.

Abstract

Lymphangioleiomyomatosis (LAM) is a rare fatal cystic lung disease due to bi-allelic inactivating mutations in tuberous sclerosis complex (TSC1/TSC2) genes coding for suppressors of the mechanistic target of rapamycin complex 1 (mTORC1). The origin of LAM cells is still unknown. Here, we profile a LAM lung compared to an age- and sex-matched healthy control lung as a hypothesis-generating approach to identify cell subtypes that are specific to LAM. Our single-cell RNA sequencing (scRNA-seq) analysis reveals novel mesenchymal and transitional alveolar epithelial states unique to LAM lung. This analysis identifies a mesenchymal cell hub coordinating the LAM disease phenotype. Mesenchymal-restricted deletion of Tsc2 in the mouse lung produces a mTORC1-driven pulmonary phenotype, with a progressive disruption of alveolar structure, a decline in pulmonary function, increase of rapamycin-sensitive expression of WNT ligands, and profound female-specific changes in mesenchymal and epithelial lung cell gene expression. Genetic inactivation of WNT signaling reverses age-dependent changes of mTORC1-driven lung phenotype, but WNT activation alone in lung mesenchyme is not sufficient for the development of mouse LAM-like phenotype. The alterations in gene expression are driven by distinctive crosstalk between mesenchymal and epithelial subsets of cells observed in mesenchymal Tsc2-deficient lungs. This study identifies sex- and age-specific gene changes in the mTORC1-activated lung mesenchyme and establishes the importance of the WNT signaling pathway in the mTORC1-driven lung phenotype.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Aged
  • Animals
  • Female
  • Humans
  • Lung / drug effects
  • Lung / metabolism*
  • Lung / physiopathology
  • Lymphangioleiomyomatosis / drug therapy
  • Lymphangioleiomyomatosis / genetics
  • Lymphangioleiomyomatosis / metabolism*
  • Lymphangioleiomyomatosis / physiopathology
  • Male
  • Mechanistic Target of Rapamycin Complex 1 / genetics
  • Mechanistic Target of Rapamycin Complex 1 / metabolism*
  • Mesoderm / drug effects
  • Mesoderm / metabolism*
  • Mice
  • Sex Factors
  • Sirolimus / administration & dosage
  • Tuberous Sclerosis Complex 2 Protein / genetics
  • Tuberous Sclerosis Complex 2 Protein / metabolism
  • Wnt Signaling Pathway

Substances

  • Tsc2 protein, mouse
  • Tuberous Sclerosis Complex 2 Protein
  • Mechanistic Target of Rapamycin Complex 1
  • Sirolimus