A new mutation in the human pres gene and its effect on prestin function

Timea Toth*, Levente Deak, Ferenc Fazakas, Jing Zheng, Laszlo Muszbek, Istvan Sziklai

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


The electromotility of cochlear outer hair cells (OHCs) is a major factor in cochlear amplification that enhances the sensitivity of hearing in humans. Prestin is associated with presumed conformational changes in an integral membrane protein. Prestin knockout (-/-) mice display loss of OHC electromotility and a 40- to 60-dB reduction in cochlear sensitivity in vivo. In the present study we described the results of a direct sequencing mutation in the pres gene that was found in genetic screening performed in 47 patients characterized by non-syndromic, mild-to-moderate hearing impairment (30-70 dB) and in 50 control subjects from Hungary, after exclusion of GJB (GJB2, GJB6) mutations in the background. Only one patient and his normal-hearing father showed a heterozygous missense mutation (R150Q/WT) in the 6th coding exon of the pres gene. None of the 50 control subjects with normal hearing carried this mutation. Electrophysiological studies on the R150Q (homozygous and heterozygous) prestin mutant transiently transfected into reporting cells demonstrated nonlinear capacitance functions (NLC) as a signature of OHC electromotility. The capacitance function in human kidney cell line TSA 201 was similar for wild-type prestin and the mutant. However, for the mutant the voltage where the maximal charge displacement occurred (V1/2) significantly shifted in the hyperpolarizing direction (∼15 mV). This is the first genetic and electrophysiological analysis of a human mutation in a coding exon of the pres gene by 47 patients with non-syndromic, sensorineural, mild-to-moderate hearing impairment; although the pathogenic role of the R150Q mutation is not unambiguous.

Original languageEnglish (US)
Pages (from-to)545-550
Number of pages6
JournalInternational journal of molecular medicine
Issue number4
StatePublished - Oct 2007


  • Hearing impairment
  • Patch-clamp
  • Pres
  • Prestin
  • R150Q mutation
  • Transfected cells

ASJC Scopus subject areas

  • Genetics


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