c-Ret-mediated hearing loss in mice with Hirschsprung disease

Proc Natl Acad Sci U S A. 2010 Jul 20;107(29):13051-6. doi: 10.1073/pnas.1004520107. Epub 2010 Jun 29.

Abstract

A significantly increased risk for dominant sensorineural deafness in patients who have Hirschsprung disease (HSCR) caused by endothelin receptor type B and SOX10 has been reported. Despite the fact that c-RET is the most frequent causal gene of HSCR, it has not been determined whether impairments of c-Ret and c-RET cause congenital deafness in mice and humans. Here, we show that impaired phosphorylation of c-Ret at tyrosine 1062 causes HSCR-linked syndromic congenital deafness in c-Ret knockin (KI) mice. The deafness involves neurodegeneration of spiral ganglion neurons (SGNs) with not only impaired phosphorylation of Akt and NF-kappaB but decreased expression of calbindin D28k in inner ears. The congenital deafness involving neurodegeneration of SGNs in c-Ret KI mice was rescued by introducing constitutively activated RET. Taken together with our results for three patients with congenital deafness with c-RET-mediated severe HSCR, our results indicate that c-Ret and c-RET are a deafness-related molecule in mice and humans.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics
  • Animals
  • Deafness / complications
  • Deafness / enzymology
  • Enzyme Activation
  • Gene Knock-In Techniques
  • Hearing Loss / complications*
  • Hearing Loss / congenital
  • Hearing Loss / enzymology*
  • Hirschsprung Disease / complications*
  • Hirschsprung Disease / enzymology*
  • Immunohistochemistry
  • Mice
  • Mutation / genetics
  • NF-kappa B / metabolism
  • Nerve Degeneration / enzymology
  • Nerve Degeneration / pathology
  • Neurons / enzymology
  • Neurons / pathology
  • Neurons / ultrastructure
  • Phosphorylation
  • Proto-Oncogene Proteins c-akt / metabolism
  • Proto-Oncogene Proteins c-ret / genetics
  • Proto-Oncogene Proteins c-ret / metabolism*
  • Spiral Ganglion / enzymology
  • Spiral Ganglion / pathology
  • Spiral Ganglion / ultrastructure

Substances

  • NF-kappa B
  • Proto-Oncogene Proteins c-ret
  • Proto-Oncogene Proteins c-akt