Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?
Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?
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DOI：
10.1016/s1471-4914(00)01869-4
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发表时间：
2001-01-01
影响因子：
13.6
通讯作者：
Ringpfeil, F
中科院分区：
文献类型：
--
作者：
Uitto, J;Pulkkinen, L;Ringpfeil, F
弹性纤维性假黄瘤是一种少见的遗传性疾病，可累及皮肤、眼睛和心血管系统，具有相当高的发病率和死亡率。这种疾病会影响受影响器官的弹性纤维，使其逐渐钙化。因此。PXE被认为是一种影响弹性纤维系统的典型遗传性结缔组织疾病。最近，PXE与MRP 6/ABCC 6基因的突变有关，MRP 6/ABCC 6基因是ABC转运蛋白家族的成员，主要在肝脏和肾脏中表达。这一信息，连同临床观察表明环境，激素和/或饮食调节的疾病，提出了有趣的可能性，PXE是一个主要的代谢紊乱的环境基因组界面。
Pseudoxanthoma elasticum (PXE) is a relatively rare heritable disorder affecting the skin, eyes and cardiovascular system, with considerable morbidity and mortality. The disease affects the elastic fibers of affected organs, which become progressively calcified. Thus. PXE has been considered as a prototypic heritable connective tissue disorder affecting the elastic fiber system. Recently, PXE has been linked to mutations in the MRP6/ABCC6 gene, a member of the ABC transporter family, expressed primarily in the liver and the kidneys. This information, together with clinical observations suggesting environmental, hormonal and/or dietary modulation of the disease, raises the intriguing possibility that PXE is a primary metabolic disorder at the environment-genome interface.