Tuberous sclerosis complex exhibits a new renal cystogenic mechanism

John J. Bissler, Fahad AL Zadjali, Dave Bridges, Aristotelis Astrinidis, Sharon Barone, Ying Yao, Je Anna R. Redd, Brian J. Siroky, Yanqing Wang, Joel T. Finley, Michael E. Rusiniak, Heinz Baumann, Kamyar Zahedi, Kenneth W. Gross, Manoocher Soleimani

Research output: Contribution to journalArticle

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.

Original languageEnglish
Article numbere13983
JournalPhysiological Reports
Volume7
Issue number2
DOIs
Publication statusPublished - Jan 1 2019

Fingerprint

Tuberous Sclerosis
Kidney
Angiomyolipoma
Autosomal Dominant Polycystic Kidney
Neoplasms
Loss of Heterozygosity
Epithelium
Phenotype
Genes

Keywords

  • Intercalated cells
  • renal cystic disease
  • renal cystogenesis
  • Tuberous sclerosis complex

ASJC Scopus subject areas

  • Physiology
  • Physiology (medical)

Cite this

Bissler, J. J., AL Zadjali, F., Bridges, D., Astrinidis, A., Barone, S., Yao, Y., ... Soleimani, M. (2019). Tuberous sclerosis complex exhibits a new renal cystogenic mechanism. Physiological Reports, 7(2), [e13983]. https://doi.org/10.14814/phy2.13983

Tuberous sclerosis complex exhibits a new renal cystogenic mechanism. / Bissler, John J.; AL Zadjali, Fahad; Bridges, Dave; Astrinidis, Aristotelis; Barone, Sharon; Yao, Ying; Redd, Je Anna R.; Siroky, Brian J.; Wang, Yanqing; Finley, Joel T.; Rusiniak, Michael E.; Baumann, Heinz; Zahedi, Kamyar; Gross, Kenneth W.; Soleimani, Manoocher.

In: Physiological Reports, Vol. 7, No. 2, e13983, 01.01.2019.

Research output: Contribution to journalArticle

Bissler, JJ, AL Zadjali, F, Bridges, D, Astrinidis, A, Barone, S, Yao, Y, Redd, JAR, Siroky, BJ, Wang, Y, Finley, JT, Rusiniak, ME, Baumann, H, Zahedi, K, Gross, KW & Soleimani, M 2019, 'Tuberous sclerosis complex exhibits a new renal cystogenic mechanism', Physiological Reports, vol. 7, no. 2, e13983. https://doi.org/10.14814/phy2.13983
Bissler, John J. ; AL Zadjali, Fahad ; Bridges, Dave ; Astrinidis, Aristotelis ; Barone, Sharon ; Yao, Ying ; Redd, Je Anna R. ; Siroky, Brian J. ; Wang, Yanqing ; Finley, Joel T. ; Rusiniak, Michael E. ; Baumann, Heinz ; Zahedi, Kamyar ; Gross, Kenneth W. ; Soleimani, Manoocher. / Tuberous sclerosis complex exhibits a new renal cystogenic mechanism. In: Physiological Reports. 2019 ; Vol. 7, No. 2.
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