Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria.
Homogentisate 1,2 dioxygenase is expressed in human osteoarticular cells: implications in alkaptonuria.
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DOI：
10.1002/jcp.24018
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发表时间：
2012-09
影响因子：
5.6
通讯作者：
Santucci, Annalisa
中科院分区：
文献类型：
--
作者：
Laschi, Marcella;Tinti, Laura;Braconi, Daniela;Millucci, Lia;Ghezzi, Lorenzo;Amato, Loredana;Selvi, Enrico;Spreafico, Adriano;Bernardini, Giulia;Santucci, Annalisa
尿白蛋白（AKU）是尿黑酸1，2-双加氧酶（HGD）缺陷引起的退行性关节病。到目前为止，关节中褐变色素的沉积归因于由肝脏产生的尿黑酸，其在血液中循环并在局部积聚。通过RT-PCR、单克隆和二维蛋白质印迹法检测人类正常和AKU骨关节细胞的HGD基因表达。HGD基因在软骨细胞、滑膜细胞、成骨细胞中均有表达。此外，HGD表达通过Western印迹法证实，其还揭示了五种酶分子种类的存在。我们的研究结果表明，AKU骨关节细胞产生的褐变色素的位置，这可能强烈有助于诱导褐变关节病。J.细胞。227：3254-3257，2012。© 2011 Wiley Periodicals，Inc.
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.
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