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Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: Implications in alkaptonuria
Author(s) -
Laschi Marcella,
Tinti Laura,
Braconi Daniela,
Millucci Lia,
Ghezzi Lorenzo,
Amato Loredana,
Selvi Enrico,
Spreafico Adriano,
Bernardini Giulia,
Santucci Annalisa
Publication year - 2012
Publication title -
journal of cellular physiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.529
H-Index - 174
eISSN - 1097-4652
pISSN - 0021-9541
DOI - 10.1002/jcp.24018
Subject(s) - alkaptonuria , homogentisic acid , ochronosis , blot , chemistry , microbiology and biotechnology , gene , biology , biochemistry , pathology , medicine
Alkaptonuria (AKU) results from defective homogentisate1,2‐dioxygenase (HGD), causing degenerative arthropathy. The deposition of ochronotic pigment in joints is so far attributed to homogentisic acid produced by the liver, circulating in the blood and accumulating locally. Human normal and AKU osteoarticular cells were tested for HGD gene expression by RT‐PCR, mono‐ and 2D‐Western blotting. HGD gene expression was revealed in chondrocytes, synoviocytes, osteoblasts. Furthermore, HGD expression was confirmed by Western blotting, that also revealed the presence of five enzymatic molecular species. Our findings indicate that AKU osteoarticular cells produce the ochronotic pigment in loco and this may strongly contribute to induction of ochronotic arthropathy. J. Cell. Physiol. 227: 3254–3257, 2012. © 2011 Wiley Periodicals, Inc.