Targeting TFEB and TFE3 in Renal Tumorigenesis

Abstract

Tuberous sclerosis complex (TSC) and Birt-Hogg-Dube (BHD) syndromes are genetic diseases associated with the development of renal cell carcinoma (RCC). In TSC and BHD, the transcription factors TFE3 and TFEB drive cell growth. In this project we will compare the effects of genetic deletion of the TFEB gene in mouse models of BHD and TSC. We will perform a screen for genes that regulate TFEB and TFE3 in cells, using a CRISPR/Cas9 approach to delete the FLCN or TSC2 gene. In parallel, we will perform a screen for small molecules that regulate TFEB and TFE3 in cells with CRISPR/Cas9 deletion of the FLCN or TSC2 gene. After confirmation, the most promising genes and small molecules will be tested in mouse models of TSC and BHD, and also tested in translocation RCC (tRCC)-derived cells, caused by the fusion of two chromosomes, one of which contains the TFE3 gene. The fundamental hypothesis of this proposal is that targeting TFEB and/or TFE3 will have clinical benefit in TSC, BHD, and other RCC. The high throughput screen of small molecules will begin with drugs that are already FDA-approved, thereby enhancing the opportunities for rapid clinical translation. Ultimately, our goal is to develop highly effective therapies for forms of RCC that are associated with hyperactivation of TFEB and TFE3.

Document Details

Document Type
DoD Grant Award
Publication Date
Dec 28, 2022
Source ID
W81XWH2210964

Entities

People

  • Andrea Ballabio

Organizations

  • Telethon Foundation
  • United States Army

Tags

Fields of Study

  • Biology

Readers

  • Aquatic Ecology
  • Molecular and Cellular Biology

Technology Areas

  • Biotechnology