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

ABSTRACT:

Objectives

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.

Methods

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.

Results

Three missense sequence changes (Arg141Leu, Gly153A

SUBMITTER: Neupane R 

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

REPOSITORIES: biostudies-literature