Mutation screen of LOXL1 in patients with female pelvic organ prolapse.
Mutation screen of LOXL1 in patients with female pelvic organ prolapse.
复制标题
女性盆腔器官脱垂患者LOXL1突变筛查
DOI：
10.1097/spv.0000000000000108
复制
发表时间：
2014
影响因子：
1.6
通讯作者：
Daneshgari,Firouz
中科院分区：
文献类型：
--
作者：
Neupane,Ruel;Sadeghi,Zhina;Fu,Rao;Hagstrom,StephanieA;Moore,CourtenayK;Daneshgari,Firouz
目的LOXL1（赖氨酰氧化酶样 1）基因编码一种铜依赖性单胺氧化酶，该酶催化原弹性蛋白单体交联形成弹性蛋白过程中赖氨酸残基的脱氨基作用。 LOXL1-KO小鼠的泌尿生殖道中不会沉积正常的弹性纤维，导致产后盆腔器官脱垂和下尿路功能障碍，导致膀胱容量下降和排尿压力降低。我们试图确定LOXL1编码序列中的哪些单核苷酸多态性在女性盆腔器官脱垂中发挥作用。方法总共筛选了66名患者，其中病例组48名，对照组18名。评估 LOXL1 的 7 个外显子的多态性。结果鉴定出 3 个错义序列变化（Arg141Leu、Gly153Asp 和 Ser159Ala）和 3 个沉默突变（Asp292Asp、Ala320Ala 和 Ile521Ile）。与对照组相比，病例组中这些多态性的频率均未发现显着差异。结论我们的研究结果不支持任何 LOXL1 外显子单核苷酸多态性与女性盆腔器官脱垂的诊断之间的关联。
ObjectivesThe LOXL1 (lysyl oxidase-like 1) gene encodes a copper-dependent monoamine oxidase that catalyzes the deamination of a lysine residue in the cross-linking of tropoelastin monomers to form elastin. LOXL1-KO mice do not deposit normal elastic fibers in their genitourinary tract resulting in postpartum pelvic organ prolapse and lower urinary tract dysfunction with decreased bladder capacity and lower voiding pressure. We sought to identify which single nucleotide polymorphisms in the LOXL1 coding sequence play a role in female pelvic organ prolapse.MethodsA total of 66 patients were screened, 48 in the case group and 18 in the control group. The 7 exons of LOXL1 were evaluated for any polymorphisms.ResultsThree missense sequence changes (Arg141Leu, Gly153Asp, and Ser159Ala) and 3 silent mutations (Asp292Asp, Ala320Ala, and Ile521Ile) were identified. None of these polymorphisms were found to differ significantly in frequency in the case group compared with the control group.ConclusionsOur findings do not support an association of any LOXL1 exonal single nucleotide polymorphisms with the diagnosis of female pelvic organ prolapse.