The ABCC6 Transporter: A New Player in Biomineralization.
The ABCC6 Transporter: A New Player in Biomineralization.
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DOI：
10.3390/ijms18091941
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发表时间：
2017-09-11
影响因子：
5.6
通讯作者：
Lefthériotis G
中科院分区：
文献类型：
--
作者：
Favre G;Laurain A;Aranyi T;Szeri F;Fulop K;Le Saux O;Duranton C;Kauffenstein G;Martin L;Lefthériotis G
弹性假黄瘤是由ABCC6基因突变引起的一种常染色体隐性遗传的遗传性代谢性疾病。自从1896年第一次描述这种疾病，声称一种涉及弹性纤维的疾病以来，随着对异位矿化关键作用的进一步发现，这个概念逐渐发展起来，这种矿化在皮肤、眼睛和血管壁的富含弹性蛋白的组织中占主导地位。在2000年发现这种疾病的致病基因后，ABCC6蛋白的功能仍然扑朔迷离。目前已经报道了300多种突变，皮肤疾病的概念已经逐渐演变为一种代谢紊乱，这是由于缺乏循环中的抗矿化因子造成的远程影响造成的。最近，越来越多的证据表明，这种抗矿化因子是无机焦磷酸盐(PPI)。这导致PPI/PI(无机磷)比值降低，这是由于携带突变的ABCC6蛋白的肝细胞和肾细胞缺乏细胞外ATP释放所致。然而，ABCC6功能障碍导致ATP释放减少的机制仍然是一个谜。对其他ABC转运蛋白的研究，如ABCC7或ABCC1，有助于我们理解ABCC6的确切功能。还讨论了ABCC6在获得性代谢性疾病中可能扮演的角色的数据和假设。
Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. Since the first description of the disease in 1896, alleging a disease involving the elastic fibers, the concept evolved with the further discoveries of the pivotal role of ectopic mineralization that is preponderant in the elastin-rich tissues of the skin, eyes and blood vessel walls. After discovery of the causative gene of the disease in 2000, the function of the ABCC6 protein remains elusive. More than 300 mutations have been now reported and the concept of a dermal disease has progressively evolved toward a metabolic disorder resulting from the remote effects caused by lack of a circulating anti-mineralization factor. Very recently, evidence has accumulated that this anti-mineralizing factor is inorganic pyrophosphate (PPi). This leads to decreased PPi/Pi (inorganic phosphate) ratio that results from the lack of extracellular ATP release by hepatocytes and probably renal cells harboring the mutant ABCC6 protein. However, the mechanism by which ABCC6 dysfunction causes diminished ATP release remains an enigma. Studies of other ABC transporters, such as ABCC7 or ABCC1 could help our understanding of what ABCC6 exact function is. Data and a hypothesis on the possible roles of ABCC6 in acquired metabolic diseases are also discussed.
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影响因子：
4.8
作者：
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通讯作者：
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影响因子：
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DOI：
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发表时间：
1990-03-15
影响因子：
24
作者：
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通讯作者：
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