Cystinuria is a rare renal genetic disease caused by mutations in cystine transporter genes and characterized by defective cystine reabsorption leading to kidney stones. In 14% of cases patients undergo nephrectomy, but given the difficulty to predict the evolution of the disease, the identification of markers of kidney damage would improve the follow up of patients with a higher risk. The aim of the present study is to develop a robust, reproducible and non-invasive methodology for proteomic analysis of urinary exosomes using high resolution mass spectrometry. A clinical pilot study, conducted on 8 cystinuria patients vs. 10 controls, highlighted 165 proteins, of which 38 were up-regulated, that separate cystinuria patients from controls, and further discriminate between severe and moderate forms of the disease. These proteins include markers of kidney injury, circulating proteins and a neutrophil signature. Analysis of selected proteins by immunobloting, performed on six additional cystinuria patients, validated the mass spectrometry data. To our knowledge, this is the first successful proteomic study in cystinuria unmasking potential role of inflammation in this disease. The workflow we have developed is applicable to investigate urinanry exosomes in different renal diseases and to search for diagnostic/prognostic markers.
[dataset license: CC0 1.0 Universal (CC0 1.0)]
Keywords: Cystinuria ; exosome ; urine proteomics ; Orbitrap
Principal Investigators: (in alphabetical order) |
Dr Ida Chiara Guerrera |
Submitting User: | ccms |
Bourderioux M, Nguyen-Khoa T, Chhuon C, Jeanson L, Tondelier D, Walczak M, Ollero M, Bekri S, Knebelmann B, Escudier E, Escudier B, Edelman A, Guerrera IC.
A new workflow for proteomic analysis of urinary exosomes and assessment in cystinuria patients.
J. Proteome Res. 2015 Jan 2;14(1):567-77. Epub 2014 Nov 12.
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