Prolyl 3-hydroxylase-1 null mice exhibit hearing impairment and abnormal morphology of the middle ear bone joints

Elena Pokidysheva, Sara Tufa, Chris Bresee, John V. Brigande, Hans Peter Bächinger

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

Prolyl 3-hydroxylase1 (P3H1) is a collagen modifying enzyme which hydroxylates certain prolines in the Xaa position of conventional GlyXaaYaa triple helical sequence. Recent investigations have revealed that mutations in the LEPRE1 (gene encoding for P3H1) cause severe osteogenesis imperfecta (OI) in humans. Similarly LEPRE1 knockout mice display an OI-like phenotype. Significant hearing loss is a common problem for people with osteogenesis imperfecta. Here we report that hearing of the P3H1 null mice is substantially affected. Auditory brainstem responses (ABRs) of the P3H1 null mice show an average increase of 20-30. dB in auditory thresholds. Three dimensional reconstructions of the mutant middle ear bones by Micro-scale X-ray computed tomography (Micro-CT) demonstrate abnormal morphology of the incudostapedial and incudomalleal joints. We establish the LEPRE1 knockout mouse as a valuable model system to investigate the mechanism of hearing loss in recessive OI.

Original languageEnglish (US)
Pages (from-to)39-44
Number of pages6
JournalMatrix Biology
Volume32
Issue number1
DOIs
StatePublished - Jan 2013

Keywords

  • Hearing loss
  • Mouse
  • Osteogenesis imperfecta
  • Prolyl 3-hydroxylase 1

ASJC Scopus subject areas

  • Molecular Biology

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