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.

Braconi, D., Bernardini, G., Paffetti, A., Millucci, L., Geminiani, M., Laschi, M., et al. (2016). Comparative proteomics in alkaptonuria provides insights into inflammation and oxidative stress. THE INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY [10.1016/j.biocel.2016.08.016].

Comparative proteomics in alkaptonuria provides insights into inflammation and oxidative stress

BRACONI, DANIELA;BERNARDINI, GIULIA;PAFFETTI, ALESSANDRO;MILLUCCI, LIA;GEMINIANI, MICHELA;LASCHI, MARCELLA;FREDIANI, BRUNO;MARZOCCHI, BARBARA;SANTUCCI, ANNALISA
2016-01-01

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.
Braconi, D., Bernardini, G., Paffetti, A., Millucci, L., Geminiani, M., Laschi, M., et al. (2016). Comparative proteomics in alkaptonuria provides insights into inflammation and oxidative stress. THE INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY [10.1016/j.biocel.2016.08.016].
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/996345