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Francesca Pasutto, Matthias Zenkel, Ursula Hoja, Daniel Berner, Steffen Uebe, Fulvia Ferrazzi, Johannes Schödel, Panah Liravi, Mineo Ozaki, Daniela Paoli, Paolo Frezzotti, Takanori Mizoguchi, Satoko Nakano, Toshiaki Kubota, Shinichi Manabe, Erika Salvi, Paolo Manunta, Daniele Cusi, Christian Gieger, Heinz-Erich Wichmann, Tin Aung, Chiea Chuen Khor, Friedrich E Kruse, André Reis, Ursula Schlötzer-Schrehardt
Although lysyl oxidase-like 1 (LOXL1) is known as the principal genetic risk factor for pseudoexfoliation (PEX) syndrome, a major cause of glaucoma and cardiovascular complications, no functional variants have been identified to date. Here, we conduct a genome-wide association scan on 771 German PEX patients and 1,350 controls, followed by independent testing of associated variants in Italian and Japanese data sets. We focus on a 3.5-kb four-component polymorphic locus positioned spanning introns 1 and 2 of LOXL1 with enhancer-like chromatin features...
May 23, 2017: Nature Communications
Niraj Nathan, Rachel W Kuchtey
Recent studies have shed new light on the genetic factors underlying pseudoexfoliation syndrome, growing our understanding of the role of the lysyl oxidase-like 1 (LOXL1) gene and its various polymorphisms as well as identifying new genetic associations. Recent years have brought new insight on how these genetic factors interact with other factors, including environmental, to confer risk to individuals and populations worldwide. All of these findings may hold importance to the screening, diagnosis, and monitoring of pseudoexfoliation and may also help lead to the identification of novel therapeutic targets...
December 2016: Current Ophthalmology Reports
L Chen, N L Wang, S S Rong, L N Huang, H B Cheng
Objective: To evaluate the association of LOXL gene and XFS/XFG in Chinese population. Methods: Experimental research. Fifty unrelated patients from shenzhen Eye Hospital and Beijing Tongren Hospital with exfoliation syndrome or exfoliation glaucoma and 100 control subjects were included. All the seven exons and the splicing region were amplified by polymerase chain reaction (PCR) and were directly sequenced. The comparison of allelic frequencies and genotype frequencies between case and control groups was performed using standard χ(2) test...
April 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
Bruna M Couri, Andrew T Lenis, Ali Borazjani, Brian M Balog, Mei Kuang, Robert S Butler, Marc S Penn, Margot S Damaser
OBJECTIVES: The aim of this study was to determine the effect of pregnancy and delivery mode on cytokine expression in the pelvic organs and serum of lysyl oxidase like-1 knockout (LOXL1 KO) mice, which develop pelvic organ prolapse after delivery. METHODS: Bladder, urethra, vagina, rectum, and blood were harvested from female LOXL1 KO mice during pregnancy, after vaginal or cesarean delivery, and from sham cesarean and unmanipulated controls. Pelvic organs and blood were also harvested from pregnant and vaginally delivered wild-type (WT) mice and from unmanipulated female virgin WT controls...
February 28, 2017: Female Pelvic Medicine & Reconstructive Surgery
Rafael Pacheco-Costa, Jay R Kadakia, Emily G Atkinson, Joseph M Wallace, Lilian I Plotkin, Rejane D Reginato
Deletion of connexin (Cx) 37 in mice leads to increased cancellous bone mass due to defective osteoclast differentiation. Paradoxically; however, Cx37-deficient mice exhibit reduced cortical thickness accompanied by higher bone strength, suggesting a contribution of Cx37 to bone matrix composition. Thus, we investigated whether global deletion of Cx37 alters the composition of organic bone extracellular matrix. Five-month-old Cx37(-/-) mice exhibited increased marrow cavity area, and periosteal and endocortical bone surface resulting in higher total area in tibia compared to Cx37(+/+) control mice...
January 16, 2017: Bone
Mahmut Asfuroglu, Busranur Cavdarli, Ozlem G Koz, Ahmet A Yarangumeli, Emine Y Ozdemir
PURPOSE: To investigate the genetic association of lysyl oxidase-like 1 (LOXL1) gene polymorphisms in patients with pseudoexfoliation (PEX) syndrome and PEX glaucoma of Turkish descent. METHODS: Three LOXL1 single nucleotide polymorphisms (SNPs) (rs1048661, rs3825942, and rs2165241) were analyzed in 109 Turkish patients (44 patients with PEX syndrome, 65 patients with PEX glaucoma) and 47 healthy subjects. RESULTS: "A" allele of SNP rs3825942 was underrepresented in control group compared with the glaucoma [odds ratio (OR)=4...
February 2017: Journal of Glaucoma
Barbara M Wirostko, Karen Curtin, Robert Ritch, Samuel Thomas, Kristina Allen-Brady, Ken R Smith, Gregory S Hageman, R Rand Allingham
Importance: Exfoliation syndrome, an inherited systemic disorder of elastin and extracellular matrix (ECM), is associated with the LOXL1 gene locus. Pelvic organ prolapse is a common connective tissue disorder that affects women. The presence of an association between exfoliation syndrome (exfoliation of the lens capsule) and pelvic organ prolapse was investigated as part of the Utah Project on Exfoliation Syndrome (UPEXS). Objective: To examine the association between exfoliation syndrome and pelvic organ prolapse using the Utah Population Database, a comprehensive resource linked to medical records...
November 1, 2016: JAMA Ophthalmology
Léa Moulin, Valérie Cenizo, Alengo Nyamay Antu, Valérie André, Sabine Pain, Pascal Sommer, Romain Debret
Lysyl oxidase-like 1 (LOXL1) is an amino-oxidase involved in maturation of elastic fibers. Its downregulation has been associated with elastic fibers repair loss in aging aorta, lung, ligament, and skin. Several evidences of LOXL1 epigenetic silencing by promoter methylation were reported in cancer and cutis laxa syndrome. We hypothesized that this mechanism could be implicated in skin aging process, as far as elastic fibers are also concerned. Anti-DNMT3A chromatin immunoprecipitation was conducted with nuclear extracts from skin fibroblasts isolated from young and elderly individuals, and showed a higher level of DNMT3A protein binding to the LOXL1 promoter in older cells concomitantly to the decrease of LOXL1 mRNA expression and the increase of LOXL1 promoter methylation...
April 2017: Rejuvenation Research
Andrew Want, Stephanie R Gillespie, Zheng Wang, Ronald Gordon, Carlo Iomini, Robert Ritch, J Mario Wolosin, Audrey M Bernstein
PURPOSE: To test the hypothesis that autophagy dysfunction is involved in exfoliation syndrome (XFS), a systemic disorder of extracellular elastic matrices that causes a distinct form of human glaucoma. METHODS: Fibroblasts derived from tenon tissue discards (TFs) from filtration surgery to relieve intraocular pressure in XFS patients were compared against age-matched TFs derived from surgery in primary open-angle glaucoma (POAG) patients or from strabismus surgery...
2016: PloS One
Takako Sasaki, Franz-Georg Hanisch, Rainer Deutzmann, Lynn Y Sakai, Tetsushi Sakuma, Tatsuo Miyamoto, Takashi Yamamoto, Ewald Hannappel, Mon-Li Chu, Harald Lanig, Klaus von der Mark
Fibulin-4 is a 60kDa calcium binding glycoprotein that has an important role in development and integrity of extracellular matrices. It interacts with elastin, fibrillin-1 and collagen IV as well as with lysyl oxidases and is involved in elastogenesis and cross-link formation. To date, several mutations in the fibulin-4 gene (FBLN4/EFEMP2) are known in patients whose major symptoms are vascular deformities, aneurysm, cutis laxa, joint laxity, or arachnodactyly. The pathogenetic mechanisms how these mutations translate into the clinical phenotype are, however, poorly understood...
December 2016: Matrix Biology: Journal of the International Society for Matrix Biology
M B Khadzhieva, S V Kamoeva, A V Ivanova, S K Abilev, L E Salnikova
Pelvic organ prolapse (POP) represents a urologic and gynecological disease, the development of which is governed both by environmental and genetic factors. We describe the results of our association study of polymorphic variants of genes involved in the assembly of elastic fibrils, namely, the lysyl oxidase protein 1 (LOXL1) and fibulin-3 (FBLN3) genes. We revealed an association of the rs2304719-T allele and rs2165241 (C)-rs2304719(T)-rs893821(T) haplotype of the LOXL1 gene with an increased risk of POP development, as well as a weak association with the disease of the rs3791660-C allele and the rs3791679(T)- rs1367228(A)-rs3791660(C)-rs2033316(A) haplotype of the FBLN3 gene...
October 2015: Genetika
Ramakrishnan Gayathri, Karunakaran Coral, Ferdinamarie Sharmila, Sarangapani Sripriya, Krishnamoorthy Sripriya, Panday Manish, B Shantha, George Ronnie, Lingam Vijaya, Angayarkanni Narayanasamy
PURPOSE: Pseudoexfoliation (PXF) is a microfibrillopathy involving disordered elastogenesis. Abnormal extracellular matrix (ECM) production underlies the pathophysiology of PXF. The enzyme Lysyl oxidase (LOX) and its isoforms are known to cross-link the elastin and collagen. Though the etiopathogensis of PXF is not well understood, studies report on the genetic risk involving LOXL1 gene. This study aims to screen LOXL1 coding variants rs1048661 and rs3825942 in the South Indian population and the implication of the single nucleotide polymorphism (SNP) with LOX activity...
April 26, 2016: Current Eye Research
Benjamin Le Calvé, Audrey Griveau, David Vindrieux, Raphaël Maréchal, Clotilde Wiel, Magali Svrcek, Johann Gout, Lamia Azzi, Léa Payen, Jérôme Cros, Christelle de la Fouchardière, Pierre Dubus, Jérôme Guitton, Laurent Bartholin, Jean-Baptiste Bachet, David Bernard
Solid tumors often display chemotherapy resistance. Pancreatic ductal adenocarcinoma (PDAC) is the archetype of resistant tumors as current chemotherapies are inefficient. The tumor stroma and extracellular matrix (ECM) are key contributors to PDAC aggressiveness and to limiting the efficacy of chemotherapy. Lysyl oxidase (LOX) family members mediate collagen cross-linking and thus promote ECM stiffening. Our data demonstrate increased LOX, LOXL1, and LOXL2 expression in PDAC, and that the level of fibrillar collagen, which is directly dependent of LOX family activity, is an independent predictive biomarker of adjuvant "Gemcitabine-based chemotherapy" benefit...
May 31, 2016: Oncotarget
Fulya Yaylacioğlu Tuncay, Zeynep Aktaş, Mehmet Ali Ergün, Sezin Güntekin Ergün, Murat Hasanreisoğlu, Berati Hasanreisoğlu
No abstract text is available yet for this article.
January 2017: Ophthalmic Genetics
Shiwani Sharma, Sarah Martin, Matthew J Sykes, Alpana Dave, Alex W Hewitt, Kathryn P Burdon, Maurizio Ronci, Nicolas H Voelcker, Jamie E Craig
Pseudoexfoliation (PEX) syndrome is a systemic disease involving the extracellular matrix. It increases the risk of glaucoma, an irreversible cause of blindness, and susceptibility to heart disease, stroke and hearing loss. Single nucleotide polymorphisms (SNPs) in the LOXL1 (Lysyl oxidase-like 1) gene are the major known genetic risk factor for PEX syndrome. Two coding SNPs, rs1048861 (G > T; Arg141Leu) and rs3825942 (G > A; Gly153Asp), in the LOXL1 gene are strongly associated with the disease risk in multiple populations worldwide...
May 2016: Experimental Eye Research
Alexios A Panoutsopoulos, Vassiliki S Gartaganis, Marios P Giannakopoulos, Panos D Goumas, Evangelos D Anastassiou, Sotirios P Gartaganis
PURPOSE: The aim of this study was to determine the possible association of rs1048661 and rs3825942 single nucleotide polymorphisms (SNPs) in the lysyl oxidase-like 1 (LOXL1) gene of cataract patients from southwestern Greece with pseudoexfoliation (PEX) syndrome. PATIENTS AND METHODS: Ninety-three patients with PEX syndrome and 74 without PEX syndrome were recruited with the principal diagnosis being cataract. LOXL1 SNPs, rs1048661 and rs3825942, were genotyped by using polymerase chain reaction...
2016: Clinical Ophthalmology
Nathan Kow, Beri Ridgeway, Mei Kuang, Robert S Butler, Margot S Damaser
OBJECTIVES: This study aimed to compare cellular expression of lysyl oxidase-like 1 (LOXL1), a key enzyme in elastin metabolism, of premenopausal women with pelvic organ prolapse (POP) compared with premenopausal controls without POP and postmenopausal women with POP. In addition, we examined whether variation of LOXL1 expression was dependent on biopsy site. METHODS: A standardized protocol was utilized to obtain vaginal biopsies from 30 women (10 premenopausal POP, 10 postmenopausal POP, and 10 premenopausal non-POP)...
July 2016: Female Pelvic Medicine & Reconstructive Surgery
Hala Kufaishi, May Alarab, Harold Drutz, Stephen Lye, Oksana Shynlova
INTRODUCTION: Primary human vaginal cells derived from women with severe pelvic organ prolapse (POP-HVCs) demonstrate altered cellular characteristics as compared to cells derived from asymptomatic women (control-HVCs). Using computer-controllable Flexcell stretch unit, we examined whether POP-HVCs react differently to mechanical loading as compared to control-HVCs by the expression of extracellular matrix (ECM) components, cell-ECM adhesion proteins, and ECM degrading and maturating enzymes...
August 2016: Reproductive Sciences
Hala Kufaishi, May Alarab, Harold Drutz, Stephen Lye, Oksana Shynlova
BACKGROUND: This study tested a hypothesis that primary human vaginal cells derived from tissue of premenopausal women with severe pelvic organ prolapse (POP-HVCs) would display differential functional characteristics as compared to vaginal cells derived from asymptomatic women with normal pelvic floor support (control-HVCs). METHODS: Vaginal tissue biopsies were collected from premenopausal patients with POP (n = 8) and asymptomatic controls (n = 7) during vaginal hysterectomy or repair...
July 2016: Reproductive Sciences
Suzan Guven Yilmaz, Melis Palamar, Huseyin Onay, Orhan Ilim, Ayca Aykut, Feristah Ferda Ozkinay, Ayse Yagci
The purpose of this study is to evaluate whole lysyl oxidase like 1 (LOXL1) gene by sequence analysis in Turkish patients with exfoliation glaucoma (XFG). A total of 48 (35 male, 13 female) patients with XFG were enrolled. Besides routine ophthalmological examination, peripapillary retinal nerve fibre layer (RNFL) analysis with optic coherence tomography was performed. Blood samples of 2 ml with EDTA were obtained and sent to Medical Genetics Department, Molecular Genetics Laboratory for LOXL1 polymorphism (PCR and agarose gel imaging) analysis...
October 2016: International Ophthalmology
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