Develop Autophagy Activators to Treat Autosomal Dominant Tubulointerstitial Kidney Disease

NIH RePORTER · NIH · R56 · $200,000 · view on reporter.nih.gov ↗

Abstract

Autosomal dominant tubulointerstitial kidney disease caused by uromodulin mutations (ADTKD-UMOD) is one of the most common hereditary kidney diseases. It represents as many as 25% of patients with inherited kidney disease, after exclusion of polycystic kidney disease and Alport syndrome. ADTKD is characterized by progressive renal fibrosis, and currently there is no treatment. To develop targeted therapies, by using CRISPR/Cas9, we have generated the first ADTKD-UMOD mouse model harboring a leading human UMOD deletion mutation. UMOD is largely synthesized and secreted by tubular cells of thick ascending limb (TAL). Our mouse model shows that autophagy deficiency in TALs leads to increased accumulation of mutant UMOD protein-the root cause of the disease, eventually causing TAL cell death and renal fibrosis in ADTKD. The goal of this R56 award is to delineate the molecular mechanism regulating autophagy in ADTKD. The proposed study will pave the way to develop new therapeutic strategies for ADTKD patients.

Key facts

NIH application ID
11174189
Project number
1R56DK138158-01A1
Recipient
WASHINGTON UNIVERSITY
Principal Investigator
Ying Maggie Chen
Activity code
R56
Funding institute
NIH
Fiscal year
2024
Award amount
$200,000
Award type
1
Project period
2024-09-17 → 2025-09-16