Research Project

Project Title:

Ketogenic diet for nephropathic cystinosis

Project Type:

Translational research

Disease group(s):

Metabolic & stone disorders

Project Summary:

The current application is based on recent advances in cystinosis, including from our laboratory, showing significant mitochondrial disease in cystinotic proximal renal tubular cells. Increasingly, ketogenic diet (KD) is being used in the clinical practice for the treatment of mitochondrial cytopathies. This diet is rich in fat and poor in proteins and carbohydrates and induces a shift in the metabolism towards the use of fats as the main fuel source. In addition, KD increases ATP levels, promotes mitochondrial biogenesis, reduces ROS production, and mitigates inflammation, which are all aspects of cell metabolism that are impaired in cystinosis. On these bases, we have tested in preliminary experiments the benefits of KD in Ctns-/- mice treated from 3 to 12 months of age. Our results show nearly complete rescue of renal damage in animals receiving this diet. In this project we will complete our studies and we propose to test if KD can be beneficial also when started after first renal lesions have developed and we propose to assess the effects of KD on muscle integrity.

Lead principal investigator(s):

Francesco Bellomo, Rome


Francesco Emma, Rome

Project Period:

09/2019   -   06/2022

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