Researchers Uncover How Gene Mutation Causes Hearing Loss

Researchers in Australia have discovered how hearing loss in humans can be accelerated by a genetic mutation.

AsianScientist (Jun. 19, 2013) – Researchers in Australia have discovered how hearing loss in humans can be accelerated by a genetic mutation.

Individuals who lack both copies of the SERPINB6 gene were reported to lose their hearing from 20 years of age. However, researchers did not know how the mutation led to hearing loss.

In their study, published in the American Journal of Pathology, the researchers have now uncovered the mechanisms through which a mutation in the SERPINB6 gene can lead to loss of hearing.

The SERPINB6 gene produces a protein that functions as an inhibitor of proteinases. Proteinases are enzymes commonly found in our body that destroys proteins.

To study the effects of the gene mutation, the researchers introduced the SERPINB6 gene mutations into mouse models. They found that mice with the mutations started to lose their hearing at three weeks of age, which is comparable to teenage years in humans. Hearing loss continued to worsen as the mice aged, a trend that was also noticed in humans.

When the inner ears of these mice were examined under the microscope, the researchers discovered that tiny, specialised cells in the inner ear, responsible for hearing, had died.

These cells include not only the sensory hair cells that detect sound vibrations, but also neighbouring cells that belong to a group of cells called fibrocytes. Both types of cells are required to transform sound into electrical signals in our hearing nerve.

Mutations affecting the sensory hair cells have been known for decades to cause hearing loss in humans but mutations affecting the fibrocytes remain uncommon.

The researchers hope that future research using the mouse models will uncover more discoveries relating to the cause of hearing loss in humans and may one day help in preventing or treating the condition.

The article can be found at: Tan et al. (2013) Absence of SERPINB6A Causes Sensorineural Hearing Loss With Multiple Histopathologies In The Mouse Inner Ear.

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Source: University of Melbourne; Photo: chrisevans/Flickr.
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