Gene expression in urinary incontinence and pelvic organ prolapse: a review of literature.


Journal

Current opinion in obstetrics & gynecology
ISSN: 1473-656X
Titre abrégé: Curr Opin Obstet Gynecol
Pays: England
ID NLM: 9007264

Informations de publication

Date de publication:
12 2020
Historique:
pubmed: 2 10 2020
medline: 16 10 2021
entrez: 1 10 2020
Statut: ppublish

Résumé

To review current evidence on gene expression in women with urinary incontinence and pelvic organ prolapse (POP). Our literature review revealed numerous genes that are associated with urinary incontinence and POP. For overactive bladder and urge urinary incontinence, four genes were highlighted: adrenergic receptor β3, Rho guanine nucleotide exchange factor 10, Rho-associated coiled-coil containing protein kinase 2, and potassium two pore domain channel subfamily K member-1. For Stress Urinary incontinence (SUI), 13 genes were included: skin-derived antileukoproteinase, collagen type XVII alpha 1 chain, plakophilin 1, keratin 16, decorin, biglycan, protein bicaudal D homolog 2, growth factor receptor-bound protein 2, signal transducer and activator of transcription 3, apolipoprotein E, Golgi SNAP receptor complex member 1, fibromodulin, and glucocerebrosidase. For POP seven genes were identified: homeobox A13, matrix metallopeptidase 9, estrogen receptor 2, collagen type XIV alpha 1 chain, collagen type V alpha 1 chain, collagen type IV alpha 2 chain, and catenin beta 1. The current review highlights many genes which are potential biomarkers and targets for drug development.

Identifiants

pubmed: 33002951
doi: 10.1097/GCO.0000000000000661
pii: 00001703-202012000-00010
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

441-448

Références

Weber AM, Abrams P, Brubaker L, et al. The standardization of terminology for researchers in female pelvic floor disorders. Int Urogynecol J Pelvic Floor Dysfunct 2001; 12:178–186.
Memon HU, Handa VL. Vaginal childbirth and pelvic floor disorders. Womens Health (Lond) 2013; 9:265–277.
Kepenekci I, Keskinkilic B, Akinsu F, et al. Prevalence of pelvic floor disorders in the female population and the impact of age, mode of delivery, and parity. Dis Colon Rectum 2011; 54:85–94.
Halder GE, Cardwell J, Gao H, et al. Creating a bundled care payment model for treatment of pelvic floor disorders: introducing value into urogynecology. Am J Obstet Gynecol 2020.
Shannon P, Markiel A, Ozier O, et al. Cytoscape: a software environment for integrated models of biomolecular interaction networks. Genome Res 2003; 13:2498–2504.
Schena G, Caplan MJ. Everything you always wanted to know about β(3)-AR∗ (∗but were afraid to ask). Cells 2019; 8:357.
Yamaguchi O, Chapple CR. Beta3-adrenoceptors in urinary bladder. Neurourol Urodyn 2007; 26:752–756.
Saliba LF, Reis RS, Brownson RC, et al. Obesity-related gene ADRB2, ADRB3 and GHRL polymorphisms and the response to a weight loss diet intervention in adult women. Genet Mol Biol 2014; 37:15–22.
Chen Y, Liao Y, Sun S, et al. Stratified meta-analysis by ethnicity revealed that ADRB3 Trp64Arg polymorphism was associated with coronary artery disease in Asians, but not in Caucasians. Medicine (Baltimore) 2020; 99:e18914–e18920.
Firat E, Aybek Z, Akgün Ş, et al. Exploring biomarkers in the overactive bladder: alterations in miRNA levels of a panel of genes in patients with OAB. Neurourol Urodyn 2019; 38:1571–1578.
Kummeling MT, Buijs JT, Wisse LJ, et al. Initial report on distribution of β3-adrenoceptor in the human female urethra. Neurourol Urodyn 2020; 39:125–132.
Bragg R, Hebel D, Vouri SM, Pitlick JM. Mirabegron: a beta-3 agonist for overactive bladder. Consult Pharm 2014; 29:823–837.
Silva I, Magalhães-Cardoso MT, Ferreirinha F, et al. β(3) Adrenoceptor-induced cholinergic inhibition in human and rat urinary bladders involves the exchange protein directly activated by cyclic AMP 1 favoring adenosine release. Br J Pharmacol 2020; 177:1589–1608.
Droppelmann CA, Campos-Melo D, Volkening K, Strong MJ. The emerging role of guanine nucleotide exchange factors in ALS and other neurodegenerative diseases. Front Cell Neurosci 2014; 8:282.
Aoki T, Ueda S, Kataoka T, Satoh T. Regulation of mitotic spindle formation by the RhoA guanine nucleotide exchange factor ARHGEF10. BMC Cell Biol 2009; 10:56.
Joseph J, Radulovich N, Wang T, et al. Rho guanine nucleotide exchange factor ARHGEF10 is a putative tumor suppressor in pancreatic ductal adenocarcinoma. Oncogene 2020; 39:308–321.
Rattan S, Phillips BR, Maxwell PJ. RhoA/Rho-kinase: pathophysiologic and therapeutic implications in gastrointestinal smooth muscle tone and relaxation. Gastroenterology 2010; 138:13–18.e1–3.
You R, Zhou W, Li Y, et al. Inhibition of ROCK2 alleviates renal fibrosis and the metabolic disorders in the proximal tubular epithelial cells. Clin Sci 2020; 134:1357–1376.
Kaczorowski M, Biecek P, Donizy P, et al. ROCK1 and ROCK2 are down-regulated in aggressive and advanced skin melanomas – a clinicopathological perspective. Anticancer Res 2020; 40:1931–1942.
Pineda RH, Hypolite J, Lee S, et al. Altered detrusor contractility and voiding patterns in mice lacking the mechanosensitive TREK-1 channel. BMC Urol 2019; 19:40.
Pérez-Verdaguer M, Capera J, Martínez-Mármol R, et al. Caveolin interaction governs Kv1.3 lipid raft targeting. Sci Rep 2016; 6:22453.
Wu X, Liu Y, Chen X, et al. Involvement of TREK-1 activity in astrocyte function and neuroprotection under simulated ischemia conditions. J Mol Neurosci 2013; 49:499–506.
Nedumaran B, Pineda RH, Rudra P, et al. Association of genetic polymorphisms in the pore domains of mechano-gated TREK-1 channel with overactive lower urinary tract symptoms in humans. Neurourol Urodyn 2019; 38:144–150.
Hunt KK, Wingate H, Yokota T, et al. Elafin, an inhibitor of elastase, is a prognostic indicator in breast cancer. Breast Cancer Res 2013; 15:R3.
van Bergen BH, Andriessen MP, Spruijt KI, et al. Expression of SKALP/elafin during wound healing in human skin. Arch Dermatol Res 1996; 288:458–462.
Isali I, Mahran A, Khalifa AO, et al. Gene expression in stress urinary incontinence: a systematic review. Int Urogynecol J 2019; 31:1–14.
Floeth M, Bruckner-Tuderman L. Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes. Am J Hum Genet 1999; 65:1530–1537.
Doolan BJ, Gomaa NS, Fawzy MM, et al. Ectodermal dysplasia-skin fragility syndrome: two new cases and review of this desmosomal genodermatosis. Exp Dermatol 2020; 29:520–530.
Kashyap S, Shanker V, Sharma N. Ectodermal dysplasia-skin fragility syndrome: a rare case report. Indian J Dermatol 2015; 60:421.
Lessard JC, Piña-Paz S, Rotty JD, et al. Keratin 16 regulates innate immunity in response to epidermal barrier breach. Proc Natl Acad Sci U S A 2013; 110:19537–19542.
Chen S, Birk DE. The regulatory roles of small leucine-rich proteoglycans in extracellular matrix assembly. FEBS J 2013; 280:2120–2137.
Young TL. Dissecting the genetics of human high myopia: a molecular biologic approach. Trans Am Ophthalmol Soc 2004; 102:423–445.
Han CY, Kang I, Harten IA, et al. Adipocyte-derived versican and macrophage-derived biglycan control adipose tissue inflammation in obesity. Cell Rep 2020; 31:107818.
Underhill LA, Avalos N, Tucker R, et al. Serum decorin and biglycan as potential biomarkers to predict PPROM in early gestation. Reprod Sci 2020; 27:1620–1626.
Reck-Peterson SL, Redwine WB, Vale RD, Carter AP. The cytoplasmic dynein transport machinery and its many cargoes. Nat Rev Mol Cell Biol 2018; 19:382–398.
Rossor AM, Sleigh JN, Groves M, et al. Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy. Acta Neuropathol Commun 2020; 8:34.
Giubellino A, Burke TR Jr, Bottaro DP. Grb2 signaling in cell motility and cancer. Expert Opin Ther Targets 2008; 12:1021–1033.
Luo HC, Yi TZ, Huang FG, et al. Role of long noncoding RNA MEG3/MiR-378/GRB2 axis in neuronal autophagy and neurological functional impairment in ischemic stroke. J Biol Chem 2020.
Aggarwal BB, Kunnumakkara AB, Harikumar KB, et al. Signal transducer and activator of transcription-3, inflammation, and cancer: how intimate is the relationship? Ann N Y Acad Sci 2009; 1171:59–76.
Ott M, Kassab C, Marisetty A, et al. Radiation with STAT3 blockade triggers dendritic cell-T cell interactions in the glioma microenvironment and therapeutic efficacy. Clin Cancer Res 2020; clincanres.4092.2019.
Getz GS, Reardon CA. Apoprotein E as a lipid transport and signaling protein in the blood, liver, and artery wall. J Lipid Res 2009; 50: (Suppl): S156–S161.
Baird PN, Richardson AJ, Robman LD, et al. Apolipoprotein (APOE) gene is associated with progression of age-related macular degeneration (AMD). Hum Mutat 2006; 27:337–342.
Sanderfoot AA, Raikhel NV. The specificity of vesicle trafficking: coat proteins and SNAREs. Plant Cell 1999; 11:629.
Zheng Z, James AW, Li C, et al. Fibromodulin reduces scar formation in adult cutaneous wounds by eliciting a fetal-like phenotype. Signal Transduct Target Ther 2017; 2:17050.
Horiguchi M, Ota M, Rifkin DB. Matrix control of transforming growth factor-β function. J Biochem 2012; 152:321–329.
Isali I, Al-Sadawi MAA, Qureshi A, et al. Growth factors involve in cellular proliferation, differentiation and migration during prostate cancer metastasis. Int J Cell Biol Physiol 2019; 2:1–13.
Do J, McKinney C, Sharma P, Sidransky E. Glucocerebrosidase and its relevance to Parkinson disease. Mol Neurodegener 2019; 14:36.
Du H, Taylor HS. The role of hox genes in female reproductive tract development, adult function, and fertility. Cold Spring Harb Perspect Med 2015; 6:a023002.
Connell KA, Guess MK, Tate A, et al. Diminished vaginal HOXA13 expression in women with pelvic organ prolapse. Menopause 2009; 16:529–533.
George JW, Fan H, Johnson B, et al. Integrated epigenome, exome, and transcriptome analyses reveal molecular subtypes and homeotic transformation in uterine fibroids. Cell Rep 2019; 29:4069–4085.e6.
Dökmeci F, Tekşen F, Çetinkaya ŞE, et al. Expressions of homeobox, collagen and estrogen genes in women with uterine prolapse. Eur J Obstet Gynecol Reprod Biol 2019; 233:26–29.
Cui N, Hu M, Khalil RA. Biochemical and biological attributes of matrix metalloproteinases. Prog Mol Biol Transl Sci 2017; 147:1–73.
Benjamin MM, Khalil RA. Matrix metalloproteinase inhibitors as investigative tools in the pathogenesis and management of vascular disease. Exp Suppl 2012; 103:209–279.
Murase S, McKay RD. Matrix metalloproteinase-9 regulates survival of neurons in newborn hippocampus. J Biol Chem 2012; 287:12184–12194.
Wells JM, Parker MM, Oster RA, et al. Elevated circulating MMP-9 is linked to increased COPD exacerbation risk in SPIROMICS and COPDGene. JCI Insight 2018; 3:e123614.
Ghersel FR, Souto RP, Gonzales EWP, et al. Assessment of metalloproteinase matrix 9 (MMP9) gene polymorphisms risk factors for pelvic organ prolapse in the brazilian population. Rev Bras Ginecol Obstet 2019; 41:164–169.
Tang ZR, Zhang R, Lian ZX, et al. Estrogen-receptor expression and function in female reproductive disease. Cells 2019; 8:1123.
Kovats S. Estrogen receptors regulate innate immune cells and signaling pathways. Cell Immunol 2015; 294:63–69.
Sharma PM, Singh K, Himashree G, et al. Estrogen receptor (ESR1 and ESR2)-mediated activation of eNOS-NO-cGMP pathway facilitates high altitude acclimatization. Nitric Oxide 2020; DOI: 10.1016/j.niox.2020.05.003.
doi: 10.1016/j.niox.2020.05.003
Ricard-Blum S. The collagen family. Cold Spring Harb Perspect Biol 2011; 3:a004978.
Ansorge HL, Meng X, Zhang G, et al. Type XIV collagen regulates fibrillogenesis: premature collagen fibril growth and tissue dysfunction in null mice. J Biol Chem 2009; 284:8427–8438.
Guay SP, Brisson D, Mathieu P, et al. A study in familial hypercholesterolemia suggests reduced methylomic plasticity in men with coronary artery disease. Epigenomics 2015; 7:17–34.
Li L, Sun Z, Chen J, et al. Genetic polymorphisms in collagen-related genes are associated with pelvic organ prolapse. Menopause 2020; 27:223–229.
Lin Z, Zeng J, Wang X. Compound phenotype of osteogenesis imperfecta and Ehlers–Danlos syndrome caused by combined mutations in COL1A1 and COL5A1. Biosci Rep 2019; 39:BSR20181409.
Mitchell AL, Schwarze U, Jennings JF, Byers PH. Molecular mechanisms of classical Ehlers–Danlos syndrome (EDS). Hum Mutat 2009; 30:995–1002.
Posthumus M, September AV, O’Cuinneagain D, et al. The COL5A1 gene is associated with increased risk of anterior cruciate ligament ruptures in female participants. Am J Sports Med 2009; 37:2234–2240.
Liao X, Bu Y, Xu Z, et al. WISP1 predicts clinical prognosis and is associated with tumor purity, immunocyte infiltration, and macrophage M2 polarization in pan-cancer. Front Genet 2020; 11:502.
Tamiolakis D, Papadopoulos N, Anastasiadis P, et al. Expression of laminin, type IV collagen and fibronectin molecules is related to embryonal skin and epidermal appendage morphogenesis. Clin Exp Obstet Gynecol 2001; 28:179–182.
Yurchenco PD, Patton BL. Developmental and pathogenic mechanisms of basement membrane assembly. Curr Pharm Des 2009; 15:1277–1294.
Verbeek E, Meuwissen ME, Verheijen FW, et al. COL4A2 mutation associated with familial porencephaly and small-vessel disease. Eur J Hum Genet 2012; 20:844–851.
MacDonald BT, Tamai K, He X. Wnt/beta-catenin signaling: components, mechanisms, and diseases. Dev Cell 2009; 17:9–26.
Tanabe S, Kawabata T, Aoyagi K, et al. Gene expression and pathway analysis of CTNNB1 in cancer and stem cells. World J Stem Cells 2016; 8:384–395.
Sun W, Xiao X, Li S, et al. Germline mutations in CTNNB1 associated with syndromic FEVR or norrie disease. Invest Ophthalmol Vis Sci 2019; 60:93–97.
Nishida Y, Hamada S, Kawai A, et al. Risk factors of local recurrence after surgery in extra-abdominal desmoid-type fibromatosis: a multicenter study in Japan. Cancer Sci 2020; 111:2935–2942.
Javanmard D, Najafi M, Babaei MR, et al. Investigation of CTNNB1 gene mutations and expression in hepatocellular carcinoma and cirrhosis in association with hepatitis B virus infection. Infect Agent Cancer 2020; 15:37.
Gong R, Ji Y, Zhao Y, Xia Z. Changes in β-catenin expression in the anterior vaginal wall tissues of women with pelvic organ prolapse: a potential pathophysiological mechanism. Female Pelvic Med Reconstr Surg 2019.

Auteurs

Ilaha Isali (I)

Department of Urology.
Department of Reproductive Biology, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.

Jasmin Abdeldayem (J)

Department of Obstetrics and Gynecology, University Hospitals Cleveland Medical Center.

Sherif El-Nashar (S)

Department of Obstetrics and Gynecology, University Hospitals Cleveland Medical Center.
Department of Reproductive Biology, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female
Humans United States Aged Cross-Sectional Studies Medicare Part C
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH