Are MYO1C and MYO1F associated with hearing loss?
Autor: | Nele Hilgert, Cristina Zadro, Xavier Estivill, Leopoldo Zelante, Maria Stella Alemanno, Massimo Carella, Emanuele Bellacchio, Guy Van Camp, Paolo Gasparini, Raquel Rabionet, Salvatore Melchionda, Francesca Donaudy, Romina Ficarella |
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Přispěvatelé: | Zadro, Cristina, Alemanno, Maria Stella, Bellacchio, Emanuele, Ficarella, Romina, Donaudy, Francesca, Melchionda, Salvatore, Zelante, Leopoldo, Rabionet, Raquel, Hilgert, Nele, Estivill, Xavier, Van Camp, Guy, Gasparini, Paolo, Carella, Massimo |
Jazyk: | angličtina |
Rok vydání: | 2009 |
Předmět: |
Models
Molecular Protein Structure Candidate gene Heterozygote DNA Primer Hearing loss Hearing Loss Sensorineural DNA Mutational Analysis Mutation Missense Sensorineural Biology DNA Mutational Analysi Myosin Type I Models Genetic variation Myosin medicine Missense mutation Gene family Humans Gene Molecular Biology DNA Primers Genetics Base Sequence Molecular Genetic Variation Heterozygote advantage Protein Structure Tertiary Mutation MYO1C MYO1F Molecular Medicine Human medicine Missense medicine.symptom Hearing lo Tertiary Human |
Zdroj: | Biochimica et biophysica acta : molecular basis of disease |
ISSN: | 0925-4439 |
Popis: | 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. |
Databáze: | OpenAIRE |
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