Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12779/6502
Title: Homogentisate 1,2 dioxygenase is expressed in brain: implications in alkaptonuria
Authors: Bernardini, Giulia 
Laschi, Marcella
Geminiani, Michela 
Braconi, Daniela 
Vannuccini, Elisa
Lupetti, Pietro
Manetti, Fabrizio 
Millucci, Lia 
Santucci, Annalisa 
Issue Date: 2015
Project: None 
Journal: JOURNAL OF INHERITED METABOLIC DISEASE
Abstract: 
Alkaptonuria is an ultra-rare autosomal recessive disease developed from the lack of homogentisate 1,2-dioxygenase (HGD) activity, causing an accumulation in connective tissues of homogentisic acid (HGA) and its oxidized derivatives in polymerized form. The deposition of ochronotic pigment has been so far attributed to homogentisic acid produced by the liver, circulating in the blood, and accumulating locally. In the present paper, we report the expression of HGD in the brain. Mouse and human brain tissues were positively tested for HGD gene expression by western blotting. Furthermore, HGD expression was confirmed in human neuronal cells that also revealed the presence of six HGD molecular species. Moreover, once cultured in HGA excess, human neuronal cells produced ochronotic pigment and amyloid. Our findings indicate that alkaptonuric brain cells produce the ochronotic pigment in loco and this may contribute to induction of neurological complications.
Description: 
111815
URI: http://hdl.handle.net/20.500.12779/6502
ISSN: 0141-8955
DOI: 10.1007/s10545-015-9829-5
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