Journal
PHYSIOLOGICAL REPORTS
Volume 7, Issue 2, Pages -Publisher
WILEY
DOI: 10.14814/phy2.13983
Keywords
Intercalated cells; renal cystic disease; renal cystogenesis; Tuberous sclerosis complex
Categories
Funding
- DoD [W81XWH-14-1-0343]
- NIH [DK107535, HL48459, R21 12121, P30CA016056]
- Le Bonheur Grant [650700]
- Memphis Research Consortium
- Veterans Administration [5 I01 BX001000-06]
- Center for Genetics of Transport and Epithelial Biology
- Agliata family
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Tuberous sclerosis complex (TSC) is a tumor predisposition syndrome with significant renal cystic and solid tumor disease. While the most common renal tumor in TSC, the angiomyolipoma, exhibits a loss of heterozygosity associated with disease, we have discovered that the renal cystic epithelium is composed of type A intercalated cells that have an intact Tsc gene that have been induced to exhibit Tsc-mutant disease phenotype. This mechanism appears to be different than that for ADPKD. The murine models described here closely resemble the human disease and both appear to be mTORC1 inhibitor responsive. The induction signaling driving cystogenesis may be mediated by extracellular vesicle trafficking.
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