title: Are MYO1C and MYO1F associated with hearing loss?
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.
authors.affiliation: Unit of Medical Genetics, Department of Reproductive Science and Development, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" - Trieste, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Zadro
authors.forename: Maria Stella
authors.initials: MS
authors.lastname: Alemanno
authors.forename: Emanuele
authors.initials: E
authors.lastname: Bellacchio
authors.forename: Romina
authors.initials: R
authors.lastname: Ficarella
authors.forename: Francesca
authors.initials: F
authors.lastname: Donaudy
authors.forename: Salvatore
authors.initials: S
authors.lastname: Melchionda
authors.forename: Leopoldo
authors.initials: L
authors.lastname: Zelante
authors.forename: Raquel
authors.initials: R
authors.lastname: Rabionet
authors.forename: Nele
authors.initials: N
authors.lastname: Hilgert
authors.forename: Xavier
authors.initials: X
authors.lastname: Estivill
authors.forename: Guy
authors.initials: G
authors.lastname: Van Camp
authors.forename: Paolo
authors.initials: P
authors.lastname: Gasparini
authors.forename: Massimo
authors.initials: M
authors.lastname: Carella
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D014644:Genetic Variation; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008958:Models, Molecular; D020125:Mutation, Missense; D024461:Myosin Type I / Q000737:chemistry / Q000235:genetics*; D017434:Protein Structure, Tertiary
chemical_list: D017931:DNA Primers; D024461:Myosin Type I; C460367:MYO1C protein, human