Dataset Information

Mutation screen of LOXL1 in patients with female pelvic organ prolapse.

ABSTRACT: The 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.A 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.Three 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.Our findings do not support an association of any LOXL1 exonal single nucleotide polymorphisms with the diagnosis of female pelvic organ prolapse.

SUBMITTER: Neupane R

PROVIDER: S-EPMC4263899 | biostudies-literature | 2014 Nov-Dec

REPOSITORIES: biostudies-literature

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Mutation screen of LOXL1 in patients with female pelvic organ prolapse.

Neupane Ruel R Sadeghi Zhina Z Fu Rao R Hagstrom Stephanie A SA Moore Courtenay K CK Daneshgari Firouz F

Female pelvic medicine & reconstructive surgery 20141101 6

<h4>Objectives</h4>The 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 ...[more]

PMID: 25185627

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Project description:In the last decade, many new surgical treatments have been developed to achieve less-invasive approaches to prolapse management. However, limited data exist on how the patterns of care for women with pelvic organ prolapse (POP) may have changed over the last decade, and whether mesh implantation techniques have influenced the type of specific compartment repair performed. We used a national data set to analyze the temporal trends in patterns of care for women with POP.Data were obtained from Public Use Files from the Centers for Medicare and Medicaid Services for a 5% random sample of national beneficiaries with an International Classification of Diseases, Ninth Revision, Clinical Modification diagnosis of POP from 1999 through 2009. Current Procedural Terminology, 4th Edition and International Classification of Diseases, Ninth Revision, Clinical Modification procedure codes were used to evaluate nonsurgical and surgical management trends for this cohort. Types of surgery were categorized by prolapse compartment and combinations of repairs. After 2005, when applicable codes became available, mesh or graft repairs were also analyzed.Over the study time period, the number of women with a diagnosis of POP in any 1 year in our 5% sample of Medicare beneficiaries remained relatively stable (range, 21,245-23,268 per year). Rates of pessary insertion were also consistent at 11-13% over the study period. Of the women with a prolapse diagnosis, 14-15% underwent surgical repair, and there was little change over time in surgical management patterns based on compartment. Most commonly, multiple compartments were repaired simultaneously. There was a rapid increase in mesh use such that in 2009, 41% of all women who underwent surgery (5.8% of the total cohort) had mesh or graft inserted in their repair. Hysterectomy rates for prolapse decreased over time. Rates of vault suspension at the time of hysterectomy for prolapse were low; however, they showed a relative increase over time (22% in 1999 to 26% in 2009).Patterns and rates of prolapse repairs remained relatively unchanged from 1999 through 2009, with an exception of a rapid rise in mesh use. These data suggest that the majority of mesh techniques were used for augmentation purposes only, but did not result in an increase in apical repairs performed in the United States. There remains a disappointingly low rate of vault suspension repairs concomitantly at time of hysterectomy for POP.

Dataset Information

Mutation screen of LOXL1 in patients with female pelvic organ prolapse.

Publications

Mutation screen of LOXL1 in patients with female pelvic organ prolapse.

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