TY - JOUR
T1 - Are MYO1C and MYO1F associated with hearing loss?
AU - Zadro, Cristina
AU - Alemanno, Maria Stella
AU - Bellacchio, Emanuele
AU - Ficarella, Romina
AU - Donaudy, Francesca
AU - Melchionda, Salvatore
AU - Zelante, Leopoldo
AU - Rabionet, Raquel
AU - Hilgert, Nele
AU - Estivill, Xavier
AU - Van Camp, Guy
AU - Gasparini, Paolo
AU - Carella, Massimo
PY - 2009/1
Y1 - 2009/1
N2 - 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.
AB - 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.
KW - Hearing loss
KW - MYO1C
KW - MYO1F
UR - http://www.scopus.com/inward/record.url?scp=58049215334&partnerID=8YFLogxK
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U2 - 10.1016/j.bbadis.2008.10.017
DO - 10.1016/j.bbadis.2008.10.017
M3 - Article
C2 - 19027848
AN - SCOPUS:58049215334
VL - 1792
SP - 27
EP - 32
JO - Biochimica et Biophysica Acta - Molecular Basis of Disease
JF - Biochimica et Biophysica Acta - Molecular Basis of Disease
SN - 0925-4439
IS - 1
ER -