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Are MYO1C and MYO1F associated with hearing loss?
Cristina Zadro1, Maria Stella Alemanno, Emanuele Bellacchio
1Unit of Medical Genetics, Department of Reproductive Science and Development, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" - Trieste, Italy.
Biochimica Et Biophysica Acta
|November 26, 2008
Summary
Mutations in MYO1C and MYO1F genes are linked to hearing loss. This study identified new mutations, suggesting these myosins play a role in auditory system development and function.
Area of Science:
- Genetics
- Molecular Biology
- Otolaryngology
Background:
- Myosins are crucial for auditory function, with mutations in known myosin genes linked to hearing impairment.
- Understanding the role of specific myosin genes, like MYO1C and MYO1F, is essential for deciphering hearing loss pathogenesis.
Purpose of the Study:
- To investigate the potential role of MYO1C and MYO1F genes in the development of bilateral sensorineural hearing loss.
- To identify novel mutations in MYO1C and MYO1F associated with hearing impairment.
Main Methods:
- A mutational screening was performed on MYO1C and MYO1F genes in patients with bilateral sensorineural hearing loss.
- Genetic analysis was conducted on hundreds of patients from various European countries.
- Homology modeling was used to predict the impact of identified mutations on protein structure and function.
Main Results:
- Six heterozygous missense mutations were identified in the MYO1C gene.
- Five heterozygous missense mutations were identified in the MYO1F gene.
- Homology modeling indicated potential effects of these mutations on the ATP binding site, ATPase activity, or actin binding of the myosins.
Conclusions:
- The identified mutations in MYO1C and MYO1F suggest these genes contribute to the pathogenesis of hearing loss.
- Further research into these myosin genes may reveal new therapeutic targets for auditory disorders.
Related Concept Videos
01:31Hearing
When we hear a sound, our nervous system is detecting sound waves—pressure waves of mechanical energy traveling through a medium. The frequency of the wave is perceived as pitch, while the amplitude is perceived as loudness.
01:22Hair Cells
Hair cells are the sensory receptors of the auditory system—they transduce mechanical sound waves into electrical energy that the nervous system can understand. Hair cells are located in the organ of Corti within the cochlea of the inner ear, between the basilar and tectorial membranes. The actual sensory receptors are called inner hair cells. The outer hair cells serve other functions, such as sound amplification in the cochlea, and are not discussed in detail here.
01:11The Auditory Ossicles
The auditory ossicles of the middle ear transmit sounds from the air as vibrations to the fluid-filled cochlea. The auditory ossicles consist of two malleus (hammer) bones, two incus (anvil) bones, and two stapes (stirrups), one on each side. These bones develop during the fetal stage and are the ones to ossify first. They are fully mature at birth and do not grow afterward.
The aptly named stapes look very much like a stirrup. The three ossicles are unique to mammals, and each plays a role in...
The aptly named stapes look very much like a stirrup. The three ossicles are unique to mammals, and each plays a role in...
01:13The Cochlea
The cochlea is a coiled structure in the inner ear that contains hair cells—the sensory receptors of the auditory system. Sound waves are transmitted to the cochlea by small bones attached to the eardrum called the ossicles, which vibrate the oval window that leads to the inner ear. This causes fluid in the chambers of the cochlea to move, vibrating the basilar membrane.
01:16Anatomy of the Ear
Auditory sensation, commonly called hearing, involves the transformation of sonic waves into neural impulses facilitated by the structures of the auditory organ. The prominent, flesh-like structure on the side of the head, called the auricle, directs sound waves towards the auditory canal. The auricle is often mislabeled as the pinna, a term more aligned with mobile structures like a feline's external ear. The auditory canal penetrates the cranium via the external auditory meatus of the...
01:15Auditory Pathway
Auditory pathways constitute the complex neural circuits responsible for transmitting and interpreting auditory information from the peripheral auditory system to the brain. Sound waves are initially captured by the outer ear, funneled through the ear canal, and reach the tympanic membrane (eardrum). These vibrations are transmitted via the middle ear's ossicles to the inner ear's cochlea.
When viewed cross-sectionally, the cochlea reveals the scala vestibuli and scala tympani flanking the...
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