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Physiol Rep. 2019 Jan;7(2):e13983. doi: 10.14814/phy2.13983.

Tuberous sclerosis complex exhibits a new renal cystogenic mechanism.

Author information

1
Department of Pediatrics, University of Tennessee Health Science Center and Le Bonheur Children's Hospital, Memphis, Tennessee.
2
St. Jude Children's Research Hospital, Memphis, Tennessee.
3
Department of Clinical Biochemistry, College of Medicine & Health Sciences, Sultan Qaboos University, Muscat, Oman.
4
Department of Nutritional Sciences, University of Michigan School of Public Health, Ann Arbor, Michigan.
5
Departments of Medicine, University of Cincinnati College of Medicine, Cincinnati, Ohio.
6
Center on Genetics of Transport, University of Cincinnati College of Medicine, Cincinnati, Ohio.
7
Research Services, Veterans Affairs Medical Center, Cincinnati, Ohio.
8
Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.
9
Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York.

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.

KEYWORDS:

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

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