AsianScientist (Oct. 18, 2016) – A group of Japanese researchers has identified a causative gene for a highly common type of hearing loss called sensorineural hearing loss (SNHL). This discovery was published in EMBO Molecular Medicine.
Sensorineural hearing loss, caused by pathology between the inner ear and the auditory center in the brain, is a common hereditary hearing disorder among infants. Despite this, treatment development for sensorineural hearing loss is not making progress. This is because the inner ear is a delicate and complex sensory organ that is difficult to research in vitro. Currently there is no basic cure, and using a hearing aid is still the most effective treatment.
In previous research, scientists discovered about 100 causative genes for sensorineural hearing loss. This time, the research team at Kobe University, led by Associate Professor Takehiko Ueyama and their collaborators, has identified the causative gene for autosomal dominant nonsyndromic sensorineural deafness (DFNA1). The causative gene for this disease was first suggested in 1997, but doubts were cast regarding its universality and properties.
The research group carried out exon analysis using next-generation sequencing, targeting 1,120 Japanese patients suffering from hearing impairments of unknown causes. In two families they discovered a novel mutation in the genetic make-up of the DIA1 molecule, which is involved in the lengthening of linear actin filaments. These filaments play an important function in the formation and maintenance of auditory hair and inner ear hair cells.
To confirm the role of DIA1 in sensorineural hearing loss, the team engineered a transgenic mouse that produces a mutant version of DIA1.
“[These mice] demonstrated progressive deafness, starting in the upper registers when young, and advancing with age until it covered all registers,” the authors reported.
By using the model transgenic mouse to find the compounds that transform actin functions within the inner ear hair cells, scientists could potentially develop new treatment for other strains of hereditary sensorineural hearing loss, in addition to DFNA1.
The article can be found at: Ueyama et al. (2016) Constitutive Activation of DIA1 (DIAPH1) via C‐terminal Truncation Causes Human Sensorineural Hearing Loss.
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Source: Kobe University; Photo: Pexels.
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