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盆底功能障碍:将遗传风险因素与生化变化联系起来。

Pelvic floor disorders: linking genetic risk factors to biochemical changes.

机构信息

Institute for Regenerative Medicine, Wake Forest University, Department of Urology, Wake Forest University Baptist Medical Center, Winston-Salem, NC, USA.

出版信息

BJU Int. 2011 Oct;108(8):1240-7. doi: 10.1111/j.1464-410X.2011.10385.x. Epub 2011 Aug 26.

DOI:10.1111/j.1464-410X.2011.10385.x
PMID:21883823
Abstract

Pelvic floor disorders (PFDs) such as stress urinary incontinence (SUI) and pelvic organ prolapse (POP) may share a common pathophysiological process related to pelvic floor tissue laxity and loss of support. We reviewed recent literature on observed biochemical changes in women with SUI and POP, linking them to genetic predisposition. We found that studies of pelvic tissues showed differences between control subjects and women with POP and SUI in collagen and elastin structure at a molecular and fibrillar level. Studies were heterogeneous but showed a trend towards decreased collagen and elastin content. The contribution of matrix metalloproteinases to increased collagenolysis can be related to genetic polymorphisms present in higher frequency in women with PFD. Extracellular matrix (ECM) protein turnover plays a role in the development of POP and SUI, but much remains to be understood of this complex dynamic interplay of enzymes, proteins and molecules. Genotyping of candidate genes participating in ECM formation will elucidate the missing link between the manifestation of the disease and the biochemical changes observed systematically, in addition to those in the pelvic floor.

摘要

盆底功能障碍(PFD),如压力性尿失禁(SUI)和盆腔器官脱垂(POP),可能具有与盆底组织松弛和支撑丧失相关的共同病理生理过程。我们回顾了有关 SUI 和 POP 女性观察到的生化变化的最新文献,将其与遗传易感性联系起来。我们发现,对盆底组织的研究表明,在胶原和弹性蛋白结构的分子和纤维水平上,POP 和 SUI 女性与对照组之间存在差异。研究存在异质性,但显示出胶原和弹性蛋白含量降低的趋势。基质金属蛋白酶对胶原溶解的促进作用可能与 PFD 女性中存在更高频率的遗传多态性有关。细胞外基质(ECM)蛋白周转在 POP 和 SUI 的发展中起作用,但对于酶、蛋白质和分子的这种复杂动态相互作用,仍有许多需要了解。参与 ECM 形成的候选基因的基因分型将阐明疾病表现与系统观察到的生化变化之间缺失的环节,除了盆底之外。

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