Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12779/6706
Title: Comparative proteomics in alkaptonuria provides insights into inflammation and oxidative stress
Authors: Braconi, Daniela 
Bernardini, Giulia 
Paffetti, Alessandro 
Millucci, Lia 
Geminiani, Michela 
Laschi, Marcella
Frediani, Bruno
Marzocchi, Barbara 
Santucci, Annalisa 
Keywords: Advanced Oxidation Protein Products; Biomarkers; Osteoarthritis; Plasma; Serum; Serum amyloid A
Issue Date: 2016
Project: None 
Journal: THE INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
Abstract: 
Alkaptonuria (AKU) is an ultra-rare inborn error of metabolism associated with a defective catabolism of phenylalanine and tyrosine leading to increased systemic levels of homogentisic acid (HGA). Excess HGA is partly excreted in the urine, partly accumulated within the body and deposited onto connective tissues under the form of an ochronotic pigment, leading to a range of clinical manifestations. No clear genotype/phenotype correlation was found in AKU, and today there is the urgent need to identify biomarkers able to monitor AKU progression and evaluate response to treatment. With this aim, we provided the first proteomic study on serum and plasma samples from alkaptonuric individuals showing pathological SAA, CRP and Advanced Oxidation Protein Products (AOPP) levels. Interesting similarities with proteomic studies on other rheumatic diseases were highlighted together with proteome alterations supporting the existence of oxidative stress and inflammation in AKU. Potential candidate biomarkers to assess disease severity, monitor disease progression and evaluate response to treatment were identified as well.
Description: 
89702
URI: http://hdl.handle.net/20.500.12779/6706
ISSN: 1357-2725
DOI: 10.1016/j.biocel.2016.08.016
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