Tuberous sclerosis complex exhibits a new renal cystogenic mechanism.

John Bissler, Fahad Zadjali, , Aristotelis Astrindis, Sharon Barone, Ying Yao, , Brian Siroky, Yanqing Wang, Joel Finley, Michael Rusniak, Heinz Baumann, Kamyar Zahedi, Kenneth Gross and Manoocher Soleimani

Physiological Reports 2019. 7: e13983.

Abstract

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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