Are MYO1C and MYO1F associated with hearing loss?

Cristina Zadro, Maria Stella Alemanno, Emanuele Bellacchio, Romina Ficarella, Francesca Donaudy, Salvatore Melchionda, Leopoldo Zelante, Raquel Rabionet, Nele Hilgert, Xavier P. Estivill, Guy Van Camp, Paolo Gasparini, Massimo Carella

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21 Citations (Scopus)

Abstract

The role of myosins in the pathogenesis of hearing loss is well established: five genes encoding unconventional myosins and two genes encoding nonmuscle conventional myosins have so far been described to be essential for normal auditory function and mutations in these genes associated with hearing impairment. To better understand the role of this gene family we performed a mutational screening on two candidate genes, MYO1C and MYO1F, analyzing hundreds of patients, affected by bilateral sensorineural hearing loss and coming from different European countries. This research activity led to the identification of 6 heterozygous missense mutations in MYO1C and additional 5 heterozygous missense mutations in MYO1F. Homology modelling suggests that some of these mutations could have a potential influence on the structure of the ATP binding site and could probably affect the ATPase activity or the actin binding process of both myosins. This study suggests a role of the above mentioned myosin genes in the pathogenesis of hearing loss.

Original languageEnglish
Pages (from-to)27-32
Number of pages6
JournalBiochimica et Biophysica Acta - Molecular Basis of Disease
Volume1792
Issue number1
DOIs
Publication statusPublished - Jan 2009
Externally publishedYes

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Keywords

  • Hearing loss
  • MYO1C
  • MYO1F

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine

Cite this

Zadro, C., Alemanno, M. S., Bellacchio, E., Ficarella, R., Donaudy, F., Melchionda, S., Zelante, L., Rabionet, R., Hilgert, N., Estivill, X. P., Van Camp, G., Gasparini, P., & Carella, M. (2009). Are MYO1C and MYO1F associated with hearing loss? Biochimica et Biophysica Acta - Molecular Basis of Disease, 1792(1), 27-32. https://doi.org/10.1016/j.bbadis.2008.10.017