Uropathic observations in mice expressing a constitutively active point mutation in the 5-HT3A receptor subunit

J Neurosci. 2004 Jun 16;24(24):5537-48. doi: 10.1523/JNEUROSCI.5658-03.2004.

Abstract

Mutant mice with a hypersensitive serotonin (5-HT)3A receptor were generated through targeted exon replacement. A valine to serine mutation (V13'S) in the channel-lining M2 domain of the 5-HT3A receptor subunit rendered the 5-HT3 receptor 70-fold more sensitive to serotonin and produced constitutive activity when combined with the 5-HT3B subunit. Mice homozygous for the mutant allele (5-HT3Avs/vs) had decreased levels of 5-HT3A mRNA. Measurements on sympathetic ganglion cells in these mice showed that whole-cell serotonin responses were reduced, and that the remaining 5-HT3 receptors were hypersensitive. Male 5-HT3Avs/vs mice died at 2-3 months of age, and heterozygous (5-HT3Avs/+) males and homozygous mutant females died at 4-6 months of age from an obstructive uropathy. Both male and female 5-HT3A mutant mice had urinary bladder mucosal and smooth muscle hyperplasia and hypertrophy, whereas male mutant mice had additional prostatic smooth muscle and urethral hyperplasia. 5-HT3A mutant mice had marked voiding dysfunction characterized by a loss of micturition contractions with overflow incontinence. Detrusor strips from 5-HT3Avs/vs mice failed to contract to neurogenic stimulation, despite overall normal responses to a cholinergic agonist, suggestive of altered neuronal signaling in mutant mouse bladders. Consistent with this hypothesis, decreased nerve fiber immunoreactivity was observed in the urinary bladders of 5-HT3Avs/vs compared with 5-HT3A wild-type (5-HT3A+/+) mice. These data suggest that persistent activation of the hypersensitive and constitutively active 5-HT3A receptor in vivo may lead to excitotoxic neuronal cell death and functional changes in the urinary bladder, resulting in bladder hyperdistension, urinary retention, and overflow incontinence.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Animals, Newborn
  • Female
  • Humans
  • In Vitro Techniques
  • Isometric Contraction
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mice, Mutant Strains
  • Muscle, Smooth / physiopathology
  • Nerve Fibers / pathology
  • Oocytes / physiology
  • Patch-Clamp Techniques
  • Point Mutation
  • Receptors, Serotonin, 5-HT3 / biosynthesis*
  • Receptors, Serotonin, 5-HT3 / genetics*
  • Urethra / physiopathology
  • Urinary Bladder / innervation
  • Urinary Bladder / pathology
  • Urinary Bladder / physiopathology
  • Urinary Bladder Neck Obstruction / mortality
  • Urinary Bladder Neck Obstruction / pathology*
  • Urinary Bladder Neck Obstruction / physiopathology*
  • Urodynamics
  • Xenopus

Substances

  • Receptors, Serotonin, 5-HT3