title: Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria.
abstract: 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.
authors: Dipartimento di Biotecnologie, Università degli Studi di Siena, Siena, Italy.
authors: Marcella
authors: M
authors: Laschi
authors: Laura
authors: L
authors: Tinti
authors: Daniela
authors: D
authors: Braconi
authors: Lia
authors: L
authors: Millucci
authors: Lorenzo
authors: L
authors: Ghezzi
authors: Loredana
authors: L
authors: Amato
authors: Enrico
authors: E
authors: Selvi
authors: Adriano
authors: A
authors: Spreafico
authors: Giulia
authors: G
authors: Bernardini
authors: Annalisa
authors: A
authors: Santucci
mesh_terms: D000368:Aged; D000474:Alkaptonuria / Q000235:genetics / Q000378:metabolism*; D002478:Cells, Cultured; D019902:Chondrocytes / Q000378:metabolism; D015870:Gene Expression / Q000235:genetics; D050560:Homogentisate 1,2-Dioxygenase / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008875:Middle Aged; D009794:Ochronosis / Q000378:metabolism*; D010006:Osteoblasts / Q000166:cytology / Q000378:metabolism; D013583:Synovial Membrane / Q000166:cytology / Q000378:metabolism*
chemical_list: D050560:Homogentisate 1,2-Dioxygenase