Hereditary hearing loss due to genetic defects results in many different conditions and is one of the most common birth defects in developed countries. The National Center for Biotechnical Information reports that out of all cases of pre-language hearing loss, more than 50 percent are due to genetics. Even hearing loss that occurs later in life may be determined by genetic information. Unlike some types of acquired hearing loss due to noise and aging, hereditary defects that impact hearing organs cannot be prevented. As scientists continue to unravel the genetic code, they’re discovering more about how and why these types of defects occur. The hope is that some day, genetic treatments will be able to prevent severe hearing loss and lower these statistics.  

Led by Gerald S. Shadel, PhD, of the Departments of Pathology and Genetics at Yale School of Medicine, a recently published study in the American Journal of Pathology focused on mice with a type of maternally-inherited hereditary hearing loss caused by defects in mitochondria. In order to study this type of hearing loss in detail, Shadel and other researchers bred mice to over-express the defective gene. After studying the mice, they determined a potential link to an enzyme known as AMPK. One again, they bred mice with one of these AMPK genes ‘knocked out.’ The results were positive – reducing the presence of AMPK appeared to prevent or delay hearing loss in the mice with mitochondrial defects.

Even though they demand much more research, these findings are promising because of the potential applications to hereditary hearing loss in humans. In fact, an AMPK-inhibiting drug treatment is already used for several other diseases. If further research supports the move to human trials, this discovery could be a truly groundbreaking for the future of genetic-based hearing loss.

Even if genetically-based hearing loss can’t be prevented, it can be treated with hearing aids, cochlear implants or surgery. Healthy hearing is vital to all stages of life: in early childhood when speech is developed and later in life when cognitive and mental health are already in decline. This is why it’s important to have your hearing (and your children) tested early and often.