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Article: Heparanase 2 and Urofacial Syndrome, a Genetic Neuropathy.

Roberts, Neil A / Woolf, Adrian S

Advances in experimental medicine and biology

2020 Volume 1221, Page(s) 807–819

Abstract: Urofacial syndrome (UFS) is a rare but potentially devastating autosomal recessive disease. It comprises both incomplete urinary bladder emptying and a facial grimace upon smiling. A subset of individuals with the disease has biallelic mutations of HPSE2, ...

Abstract	Urofacial syndrome (UFS) is a rare but potentially devastating autosomal recessive disease. It comprises both incomplete urinary bladder emptying and a facial grimace upon smiling. A subset of individuals with the disease has biallelic mutations of HPSE2, coding for heparanase-2. Heparanase-2 and the classical heparanase are both detected in nerves in the maturing bladder, and mice mutant for Hpse2 have UFS-like bladder voiding defects and abnormally patterned bladder nerves. Other evidence suggests that the heparanase axis plays several roles in the peripheral and central nervous systems, quite apart from UFS-related biology. Some individuals with UFS lack HPSE2 mutations and instead carry biallelic variants of LRIG2, encoding leucine-rich-repeats and immunoglobulin-like-domains 2. Like heparanase-2, LRIG2 is detected in bladder nerves, and mutant Lrig2 mice have urination defects and abnormal patterns of bladder nerves. Further work is now needed to define the precise roles of heparanase-2 and LRIG2 in normal and abnormal neural differentiation.
MeSH term(s)	Animals ; Facies ; Glucuronidase/metabolism ; Humans ; Urologic Diseases/enzymology ; Urologic Diseases/genetics
Chemical Substances	heparanase (EC 3.2.1.-) ; Glucuronidase (EC 3.2.1.31)
Language	English
Publishing date	2020-04-08
Publishing country	United States
Document type	Journal Article ; Review
ISSN	2214-8019 ; 0065-2598
ISSN (online)	2214-8019
ISSN	0065-2598
DOI	10.1007/978-3-030-34521-1_35
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Article ; Online: Envisioning treating genetically-defined urinary tract malformations with viral vector-mediated gene therapy.

Lopes, Filipa M / Woolf, Adrian S / Roberts, Neil A

Journal of pediatric urology

2021 Volume 17, Issue 5, Page(s) 610–620

Abstract: Human urinary tract malformations can cause dysfunctional voiding, urosepsis and kidney failure. Other affected individuals, with severe phenotypes on fetal ultrasound screening, undergo elective termination. Currently, there exist no specific treatments ...

Abstract	Human urinary tract malformations can cause dysfunctional voiding, urosepsis and kidney failure. Other affected individuals, with severe phenotypes on fetal ultrasound screening, undergo elective termination. Currently, there exist no specific treatments that target the primary biological disease mechanisms that generate these urinary tract malformations. Historically, the pathogenesis of human urinary tract malformations has been obscure. It is now established that some such individuals have defined monogenic causes for their disease. In health, the implicated genes are expressed in either differentiating urinary tract smooth muscle cells, urothelial cells or peripheral nerve cells supplying the bladder. The phenotypes arising from mutations of these genes include megabladder, congenital functional bladder outflow obstruction, and vesicoureteric reflux. We contend that these genetic and molecular insights can now inform the design of novel therapies involving viral vector-mediated gene transfer. Indeed, this technology is being used to treat individuals with early onset monogenic disease outside the urinary tract, such as spinal muscular atrophy. Moreover, it has been contended that human fetal gene therapy, which may be necessary to ameliorate developmental defects, could become a reality in the coming decades. We suggest that viral vector-mediated gene therapies should first be tested in existing mouse models with similar monogenic and anatomical aberrations as found in people with urinary tract malformations. Indeed, gene transfer protocols have been successfully pioneered in newborn and fetal mice to treat non-urinary tract diseases. If similar strategies were successful in animals with urinary tract malformations, this would pave the way for personalized and potentially curative treatments for people with urinary tract malformations.
MeSH term(s)	Animals ; Genetic Therapy ; Mice ; Urinary Tract/diagnostic imaging ; Urogenital Abnormalities ; Vesico-Ureteral Reflux
Language	English
Publishing date	2021-07-07
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2237683-5
ISSN	1873-4898 ; 1477-5131
ISSN (online)	1873-4898
ISSN	1477-5131
DOI	10.1016/j.jpurol.2021.07.002
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Article: Congenital Disorders of the Human Urinary Tract: Recent Insights From Genetic and Molecular Studies.

Woolf, Adrian S / Lopes, Filipa M / Ranjzad, Parisa / Roberts, Neil A

Frontiers in pediatrics

2019 Volume 7, Page(s) 136

Abstract: The urinary tract comprises the renal pelvis, the ureter, the urinary bladder, and the urethra. The tract acts as a functional unit, first propelling urine from the kidney to the bladder, then storing it at low pressure inside the bladder which ... ...

Abstract	The urinary tract comprises the renal pelvis, the ureter, the urinary bladder, and the urethra. The tract acts as a functional unit, first propelling urine from the kidney to the bladder, then storing it at low pressure inside the bladder which intermittently and completely voids urine through the urethra. Congenital diseases of these structures can lead to a range of diseases sometimes associated with fetal losses or kidney failure in childhood and later in life. In some of these disorders, parts of the urinary tract are severely malformed. In other cases, the organs appear grossly intact yet they have functional deficits that compromise health. Human studies are beginning to indicate monogenic causes for some of these diseases. Here, the implicated genes can encode smooth muscle, neural or urothelial molecules, or transcription factors that regulate their expression. Furthermore, certain animal models are informative about how such molecules control the development and functional differentiation of the urinary tract. In future, novel therapies, including those based on gene transfer and stem cell technologies, may be used to treat these diseases to complement conventional pharmacological and surgical clinical therapies.
Language	English
Publishing date	2019-04-11
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2711999-3
ISSN	2296-2360
ISSN	2296-2360
DOI	10.3389/fped.2019.00136
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Article ; Online: Dysfunctional bladder neurophysiology in urofacial syndrome Hpse2 mutant mice.

Manak, Imerjit / Gurney, Alison M / McCloskey, Karen D / Woolf, Adrian S / Roberts, Neil A

Neurourology and urodynamics

2020 Volume 39, Issue 7, Page(s) 1930–1938

Abstract: Aims: Urofacial syndrome (UFS) is an autosomal recessive disease characterized by detrusor contraction against an incompletely dilated outflow tract. This dyssynergia causes dribbling incontinence and incomplete voiding. Around half of individuals with ... ...

Abstract	Aims: Urofacial syndrome (UFS) is an autosomal recessive disease characterized by detrusor contraction against an incompletely dilated outflow tract. This dyssynergia causes dribbling incontinence and incomplete voiding. Around half of individuals with UFS have biallelic mutations of HPSE2 that encodes heparanase 2, a protein found in pelvic ganglia and bladder nerves. Homozygous Hpse2 mutant mice have abnormal patterns of nerves in the bladder body and outflow tract, and also have dysfunctional urinary voiding. We hypothesized that bladder neurophysiology is abnormal Hpse2 mutant mice. Methods: Myography was used to study bladder bodies and outflow tracts isolated from juvenile mice. Myogenic function was analyzed after chemical stimulation or blockade of key receptors. Neurogenic function was assessed by electrical field stimulation (EFS). Muscarinic receptor expression was semi-quantified by Western blot analysis. Results: Nitrergic nerve-mediated relaxation of precontracted mutant outflow tracts was significantly decreased vs littermate controls. The contractile ability of mutant outflow tracts was normal as assessed by KCl and the α1-adrenoceptor agonist phenylephrine. EFS of mutant bladder bodies induced significantly weaker contractions than controls. Conversely, the muscarinic agonist carbachol induced significantly stronger contractions of bladder body than controls. Conclusions: The Hpse2 model of UFS features aberrant bladder neuromuscular physiology. Further work is required to determine whether similar aberrations occur in patients with UFS.
MeSH term(s)	Adrenergic alpha-1 Receptor Agonists/pharmacology ; Animals ; Carbachol/pharmacology ; Electric Stimulation ; Facies ; Glucuronidase/genetics ; Male ; Mice ; Mice, Inbred C57BL ; Muscarinic Agonists/pharmacology ; Muscle Contraction/drug effects ; Mutation/genetics ; Nitric Oxide/physiology ; Phenylephrine/pharmacology ; Potassium Chloride/pharmacology ; Receptors, Muscarinic/biosynthesis ; Receptors, Muscarinic/genetics ; Urinary Bladder, Neurogenic/genetics ; Urinary Bladder, Neurogenic/physiopathology ; Urodynamics ; Urologic Diseases/genetics ; Urologic Diseases/physiopathology
Chemical Substances	Adrenergic alpha-1 Receptor Agonists ; Muscarinic Agonists ; Receptors, Muscarinic ; Phenylephrine (1WS297W6MV) ; Nitric Oxide (31C4KY9ESH) ; Potassium Chloride (660YQ98I10) ; Carbachol (8Y164V895Y) ; heparanase (EC 3.2.1.-) ; Glucuronidase (EC 3.2.1.31)
Language	English
Publishing date	2020-07-01
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	604904-7
ISSN	1520-6777 ; 0733-2467
ISSN (online)	1520-6777
ISSN	0733-2467
DOI	10.1002/nau.24450
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Zs.A 1828: Show issues

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Article ; Online: Neurogenic Defects Occur in

Grenier, Celine / Lopes, Filipa M / Cueto-González, Anna M / Rovira-Moreno, Eulàlia / Gander, Romy / Jarvis, Benjamin W / McCloskey, Karen D / Gurney, Alison M / Beaman, Glenda M / Newman, William G / Woolf, Adrian S / Roberts, Neil A

Kidney international reports

2023 Volume 8, Issue 7, Page(s) 1417–1429

Abstract: Introduction: Urofacial, or Ochoa, syndrome (UFS) is an autosomal recessive disease featuring a dyssynergic bladder with detrusor smooth muscle contracting against an undilated outflow tract. It also features an abnormal grimace. Half of individuals ... ...

Abstract	Introduction: Urofacial, or Ochoa, syndrome (UFS) is an autosomal recessive disease featuring a dyssynergic bladder with detrusor smooth muscle contracting against an undilated outflow tract. It also features an abnormal grimace. Half of individuals with UFS carry biallelic variants in Methods: We describe a new family with Results: The index case presented antenatally with urinary tract (UT) dilatation, and postnatally had urosepsis and functional bladder outlet obstruction. He had the grimace that, together with UT disease, characterizes UFS. Although Conclusion: Putting this family in the context of all reported UT disease-associated
Language	English
Publishing date	2023-04-30
Publishing country	United States
Document type	Journal Article
ISSN	2468-0249
ISSN (online)	2468-0249
DOI	10.1016/j.ekir.2023.04.017
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Article ; Online: Overactivity or blockade of transforming growth factor-β each generate a specific ureter malformation.

Lopes, Filipa M / Roberts, Neil A / Zeef, Leo Ah / Gardiner, Natalie J / Woolf, Adrian S

The Journal of pathology

2019 Volume 249, Issue 4, Page(s) 472–484

Abstract: Transforming growth factor-β (TGFβ) has been reported to be dysregulated in malformed ureters. There exists, however, little information on whether altered TGFβ levels actually perturb ureter development. We therefore hypothesised that TGFβ has ... ...

Abstract	Transforming growth factor-β (TGFβ) has been reported to be dysregulated in malformed ureters. There exists, however, little information on whether altered TGFβ levels actually perturb ureter development. We therefore hypothesised that TGFβ has functional effects on ureter morphogenesis. Tgfb1, Tgfb2 and Tgfb3 transcripts coding for TGFβ ligands, as well as Tgfbr1 and Tgfbr2 coding for TGFβ receptors, were detected by quantitative polymerase chain reaction in embryonic mouse ureters collected over a wide range of stages. As assessed by in situ hybridisation and immunohistochemistry, the two receptors were detected in embryonic urothelia. Next, TGFβ1 was added to serum-free cultures of embryonic day 15 mouse ureters. These organs contain immature smooth muscle and urothelial layers and their in vivo potential to grow and acquire peristaltic function can be replicated in serum-free organ culture. Such organs therefore constitute a suitable developmental stage with which to define roles of factors that affect ureter growth and functional differentiation. Exogenous TGFβ1 inhibited growth of the ureter tube and generated cocoon-like dysmorphogenesis. RNA sequencing suggested that altered levels of transcripts encoding certain fibroblast growth factors (FGFs) followed exposure to TGFβ. In serum-free organ culture exogenous FGF10 but not FGF18 abrogated certain dysmorphic effects mediated by exogenous TGFβ1. To assess whether an endogenous TGFβ axis functions in developing ureters, embryonic day 15 explants were exposed to TGFβ receptor chemical blockade; growth of the ureter was enhanced, and aberrant bud-like structures arose from the urothelial tube. The muscle layer was attenuated around these buds, and peristalsis was compromised. To determine whether TGFβ effects were limited to one stage, explants of mouse embryonic day 13 ureters, more primitive organs, were exposed to exogenous TGFβ1, again generating cocoon-like structures, and to TGFβ receptor blockade, again generating ectopic buds. As for the mouse studies, immunostaining of normal embryonic human ureters detected TGFβRI and TGFβRII in urothelia. Collectively, these observations reveal unsuspected regulatory roles for endogenous TGFβ in embryonic ureters, fine-tuning morphogenesis and functional differentiation. Our results also support the hypothesis that the TGFβ up-regulation reported in ureter malformations impacts on pathobiology. Further experiments are needed to unravel the intracellular signalling mechanisms involved in these dysmorphic responses. © 2019 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of Pathological Society of Great Britain and Ireland.
MeSH term(s)	Animals ; Cell Differentiation ; Fibroblast Growth Factors/genetics ; Fibroblast Growth Factors/metabolism ; Gene Expression Regulation, Developmental ; Gestational Age ; Humans ; Mice ; Morphogenesis ; Organ Culture Techniques ; Receptors, Transforming Growth Factor beta/genetics ; Receptors, Transforming Growth Factor beta/metabolism ; Signal Transduction ; Transforming Growth Factor beta/genetics ; Transforming Growth Factor beta/metabolism ; Transforming Growth Factor beta/pharmacology ; Ureter/abnormalities ; Ureter/drug effects ; Ureter/metabolism ; Urogenital Abnormalities/genetics ; Urogenital Abnormalities/metabolism ; Urothelium/abnormalities ; Urothelium/drug effects ; Urothelium/metabolism
Chemical Substances	Receptors, Transforming Growth Factor beta ; Transforming Growth Factor beta ; Fibroblast Growth Factors (62031-54-3)
Language	English
Publishing date	2019-10-01
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	3119-7
ISSN	1096-9896 ; 0022-3417
ISSN (online)	1096-9896
ISSN	0022-3417
DOI	10.1002/path.5335
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Article ; Online: From gene discovery to new biological mechanisms: heparanases and congenital urinary bladder disease.

Roberts, Neil A / Hilton, Emma N / Woolf, Adrian S

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

2015 Volume 31, Issue 4, Page(s) 534–540

Abstract: We present a scientific investigation into the pathogenesis of a urinary bladder disease. The disease in question is called urofacial syndrome (UFS), a congenital condition inherited in an autosomal recessive manner. UFS features incomplete urinary ... ...

Abstract	We present a scientific investigation into the pathogenesis of a urinary bladder disease. The disease in question is called urofacial syndrome (UFS), a congenital condition inherited in an autosomal recessive manner. UFS features incomplete urinary bladder emptying and vesicoureteric reflux, with a high risk of recurrent urosepsis and end-stage renal disease. The story starts from a human genomic perspective, then proceeds through experiments that seek to determine the roles of the implicated molecules in embryonic frogs and newborn mice. A future aim would be to use such biological knowledge to intelligently choose novel therapies for UFS. We focus on heparanase proteins and the peripheral nervous system, molecules and tissues that appear to be key players in the pathogenesis of UFS and therefore must also be critical for functional differentiation of healthy bladders. These considerations allow the envisioning of novel biological treatments, although the potential difficulties of targeting the developing bladder in vivo should not be underestimated.
MeSH term(s)	Animals ; Genetic Association Studies ; Glucuronidase/genetics ; Glucuronidase/metabolism ; Humans ; Mice ; Mutation/genetics ; Urinary Bladder Diseases/congenital ; Urinary Bladder Diseases/enzymology ; Urinary Bladder Diseases/genetics
Chemical Substances	heparanase (EC 3.2.1.-) ; Glucuronidase (EC 3.2.1.31)
Language	English
Publishing date	2015-08-27
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	90594-x
ISSN	1460-2385 ; 0931-0509
ISSN (online)	1460-2385
ISSN	0931-0509
DOI	10.1093/ndt/gfv309
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Article ; Online: Exogenous transforming growth factor-β1 enhances smooth muscle differentiation in embryonic mouse jejunal explants.

Coletta, Riccardo / Roberts, Neil A / Randles, Michael J / Morabito, Antonino / Woolf, Adrian S

Journal of tissue engineering and regenerative medicine

2017 Volume 12, Issue 1, Page(s) 252–264

Abstract: An ex vivo experimental strategy that replicates in vivo intestinal development would in theory provide an accessible setting with which to study normal and dysmorphic gut biology. The current authors recently described a system in which mouse embryonic ... ...

Abstract	An ex vivo experimental strategy that replicates in vivo intestinal development would in theory provide an accessible setting with which to study normal and dysmorphic gut biology. The current authors recently described a system in which mouse embryonic jejunal segments were explanted onto semipermeable platforms and fed with chemically defined serum-free media. Over 3 days in organ culture, explants formed villi and they began to undergo spontaneous peristalsis. As defined in the current study, the wall of the explanted gut failed to form a robust longitudinal smooth muscle (SM) layer as it would do in vivo over the same time period. Given the role of transforming growth factor β1 (TGFβ1) in SM differentiation in other organs, it was hypothesized that exogenous TGFβ1 would enhance SM differentiation in these explants. In vivo, TGFβ receptors I and II were both detected in embryonic longitudinal jejunal SM cells and, in organ culture, exogenous TGFβ1 induced robust differentiation of longitudinal SM. Microarray profiling showed that TGFβ1 increased SM specific transcripts in a dose dependent manner. TGFβ1 proteins were detected in amniotic fluid at a time when the intestine was physiologically herniated. By analogy with the requirement for exogenous TGFβ1 for SM differentiation in organ culture, the TGFβ1 protein that was demonstrated to be present in the amniotic fluid may enhance intestinal development when it is physiologically herniated in early gestation. Future studies of embryonic intestinal cultures should include TGFβ1 in the defined media to produce a more faithful model of in vivo muscle differentiation. Copyright © 2017 The Authors Journal of Tissue Engineering and Regenerative Medicine Published by John Wiley & Sons, Ltd.
MeSH term(s)	Animals ; Cell Differentiation/drug effects ; Cell Proliferation/drug effects ; Embryo, Mammalian/drug effects ; Humans ; Jejunum/embryology ; Mice ; Myocytes, Smooth Muscle/cytology ; Myocytes, Smooth Muscle/drug effects ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Receptors, Transforming Growth Factor beta/metabolism ; Transcriptome/genetics ; Transforming Growth Factor beta1/pharmacology
Chemical Substances	RNA, Messenger ; Receptors, Transforming Growth Factor beta ; Transforming Growth Factor beta1
Language	English
Publishing date	2017-04-27
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2316155-3
ISSN	1932-7005 ; 1932-6254
ISSN (online)	1932-7005
ISSN	1932-6254
DOI	10.1002/term.2409
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Article ; Online: Experimental long-term diabetes mellitus alters the transcriptome and biomechanical properties of the rat urinary bladder.

Hindi, Emad A / Williams, Craig J / Zeef, Leo A H / Lopes, Filipa M / Newman, Katie / Davey, Martha M M / Hodson, Nigel W / Hilton, Emma N / Huang, Jennifer L / Price, Karen L / Roberts, Neil A / Long, David A / Woolf, Adrian S / Gardiner, Natalie J

Scientific reports

2021 Volume 11, Issue 1, Page(s) 15529

Abstract: Diabetes mellitus (DM) is the leading cause of chronic kidney disease and diabetic nephropathy is widely studied. In contrast, the pathobiology of diabetic urinary bladder disease is less understood despite dysfunctional voiding being common in DM. We ... ...

Abstract	Diabetes mellitus (DM) is the leading cause of chronic kidney disease and diabetic nephropathy is widely studied. In contrast, the pathobiology of diabetic urinary bladder disease is less understood despite dysfunctional voiding being common in DM. We hypothesised that diabetic cystopathy has a characteristic molecular signature. We therefore studied bladders of hyperglycaemic and polyuric rats with streptozotocin (STZ)-induced DM. Sixteen weeks after induction of DM, as assessed by RNA arrays, wide-ranging changes of gene expression occurred in DM bladders over and above those induced in bladders of non-hyperglycaemic rats with sucrose-induced polyuria. The altered transcripts included those coding for extracellular matrix regulators and neural molecules. Changes in key genes deregulated in DM rat bladders were also detected in db/db mouse bladders. In DM rat bladders there was reduced birefringent collagen between detrusor muscle bundles, and atomic force microscopy showed a significant reduction in tissue stiffness; neither change was found in bladders of sucrose-treated rats. Thus, altered extracellular matrix with reduced tissue rigidity may contribute to voiding dysfunction in people with long-term DM. These results serve as an informative stepping stone towards understanding the complex pathobiology of diabetic cystopathy.
MeSH term(s)	Animals ; Diabetes Mellitus, Experimental/metabolism ; Enzyme-Linked Immunosorbent Assay ; Male ; Microscopy, Atomic Force ; Oligonucleotide Array Sequence Analysis ; Rats ; Rats, Wistar ; Transcriptome/genetics ; Transcriptome/physiology ; Urinary Bladder/metabolism
Language	English
Publishing date	2021-07-30
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-021-94532-7
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Frontiers in genetics

2022 Volume 13, Page(s) 896125

Abstract: Urofacial (also called Ochoa) syndrome (UFS) is an autosomal recessive congenital disorder of the urinary bladder featuring voiding dysfunction and a grimace upon smiling. Biallelic variants ... ...

Abstract	Urofacial (also called Ochoa) syndrome (UFS) is an autosomal recessive congenital disorder of the urinary bladder featuring voiding dysfunction and a grimace upon smiling. Biallelic variants in
Language	English
Publishing date	2022-06-23
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2606823-0
ISSN	1664-8021
ISSN	1664-8021
DOI	10.3389/fgene.2022.896125
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