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Dysfunctional bladder neurophysiology in urofacial syndrome Hpse2 mutant mice
Imerjit Manak1, Alison M Gurney2, Karen D McCloskey3
1Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.
Neurourology and Urodynamics
|July 2, 2020
Summary
Urofacial syndrome (UFS) involves abnormal bladder nerve function. Hpse2 mutant mice show decreased nerve relaxation and weaker bladder contractions, suggesting a link between Hpse2 and urinary voiding control.
Area of Science:
- Urology
- Genetics
- Neuroscience
Background:
- Urofacial syndrome (UFS) is an autosomal recessive disorder linked to HPSE2 mutations.
- It causes urinary incontinence and incomplete voiding due to detrusor-sphincter dyssynergia.
- HPSE2 encodes heparanase 2, a protein crucial for pelvic ganglia and bladder nerves.
Purpose of the Study:
- To investigate bladder neurophysiology in Hpse2 mutant mice, a model for UFS.
- To determine if Hpse2 deficiency leads to aberrant bladder neuromuscular function.
Main Methods:
- Myography and electrical field stimulation (EFS) were used on mouse bladder tissues.
- Myogenic and neurogenic functions were assessed via chemical stimulation and receptor blockade.
- Muscarinic receptor expression was analyzed using Western blot.
Main Results:
- Mutant mouse bladders exhibited significantly decreased nitrergic nerve-mediated relaxation in outflow tracts.
- Electrical field stimulation showed weaker bladder body contractions in mutants compared to controls.
- While outflow tract contractility was normal, bladder bodies showed stronger contractions with muscarinic agonist stimulation.
Conclusions:
- The Hpse2 mouse model displays abnormal bladder neuromuscular physiology relevant to UFS.
- These findings highlight potential neurophysiological defects in UFS patients with HPSE2 mutations.
- Further research is needed to confirm these aberrations in human UFS cases.
