Research Project

Project Title:	Vanin-1 as therapeutic target in nephropathic cystinosis
Project Type:	Translational research
Disease group(s):	Metabolic & stone disorders
Project Summary:	The central hypothesis of this research project is that, at least in part, ketogenic diet improves the cystinotic phenotype by stimulating endogenous cysteamine synthesis, and that endogenous cysteamine levels can be influenced by modulating the Coenzyme A biosynthetic pathway, in particular the reaction catalyzed by vanin-1 enzyme (Vnn1). We propose to test if a double knockout mouse C57BL/6 Ctns-/- Vnn1-/- is insensitive to the positive effects of ketogenic diet from the renal standpoint, and to test in vitro if drugs that stimulate the production of endogenous cysteamine in human CTNS-/- proximal tubular epithelial cells have a positive effect.
Lead principal investigator(s):	Francesco Bellomo, Rome
Co-investigator(s):	Francesco Emma, Rome
Project Period:	01/2021 - 08/2023