Alkaptonuria (AKU) is an ultra-rare metabolic disorder of the catabolic pathway of tyrosine and phenylalanine that has been poorly characterized at molecular level. As a genetic disease, AKU is present at birth, but its most severe manifestations are delayed due to the deposition of a dark-brown pigment (ochronosis) in connective tissues. The reasons for such a delayed manifestation have not been clarified yet, though several lines of evidence suggest that the metabolite accumulated in AKU sufferers (homogentisic acid) is prone to auto-oxidation and induction of oxidative stress. The clarification of the pathophysiological molecular mechanisms of AKU would allow a better understanding of the disease, help find a cure for AKU and provide a model for more common rheumatic diseases. With this aim, we have shown how proteomics and redox proteomics might successfully overcome the difficulties of studying a rare disease such as AKU and the limitations of the hitherto adopted approaches.

Braconi, D., Millucci, L., Ghezzi, L., Santucci, A. (2013). Redox proteomics gives insights into the role of oxidative stress in alkaptonuria. EXPERT REVIEW OF PROTEOMICS, 10((6)), 521-535 [10.1586/14789450.2013.858020].

Redox proteomics gives insights into the role of oxidative stress in alkaptonuria.

BRACONI, DANIELA;MILLUCCI, LIA;GHEZZI, LORENZO;SANTUCCI, ANNALISA
2013-01-01

Abstract

Alkaptonuria (AKU) is an ultra-rare metabolic disorder of the catabolic pathway of tyrosine and phenylalanine that has been poorly characterized at molecular level. As a genetic disease, AKU is present at birth, but its most severe manifestations are delayed due to the deposition of a dark-brown pigment (ochronosis) in connective tissues. The reasons for such a delayed manifestation have not been clarified yet, though several lines of evidence suggest that the metabolite accumulated in AKU sufferers (homogentisic acid) is prone to auto-oxidation and induction of oxidative stress. The clarification of the pathophysiological molecular mechanisms of AKU would allow a better understanding of the disease, help find a cure for AKU and provide a model for more common rheumatic diseases. With this aim, we have shown how proteomics and redox proteomics might successfully overcome the difficulties of studying a rare disease such as AKU and the limitations of the hitherto adopted approaches.
2013
Braconi, D., Millucci, L., Ghezzi, L., Santucci, A. (2013). Redox proteomics gives insights into the role of oxidative stress in alkaptonuria. EXPERT REVIEW OF PROTEOMICS, 10((6)), 521-535 [10.1586/14789450.2013.858020].
File in questo prodotto:
File Dimensione Formato  
Braconi et al Exp Rev Prot 2013.pdf

non disponibili

Tipologia: Post-print
Licenza: NON PUBBLICO - Accesso privato/ristretto
Dimensione 694.95 kB
Formato Adobe PDF
694.95 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

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/11365/45937
 Attenzione

Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo