When a child is born, many people enjoy pointing out which physical features were inherited from each parent. Maybe the baby has her mom’s eyes or her dad’s smile, or she might have the same hair color as her grandfather or the same nose shape as her grandmother. However, did you know that you could inherit much more than eye or hair color? Researchers have long known that hearing loss could be inherited as well. Now, new research promises to reveal the exact genetic variant responsible for adult-onset hearing loss.
Although researchers have known for years that adult-onset hearing loss could be inherited—with heritability being responsible for an estimated 30 to 70 percent of cases —scientists had previously not known the cause. Research has already identified 118 genes linked to early-onset hearing loss (child or congenital hearing loss), but until now, none had been connected to adult-onset hearing loss. A new study appears to have identified one particular genetic variant that is potentially linked to adult-onset hearing loss.
The study was conducted by researchers at the Radboud University Medical Center in the city of Nijmegen in the Netherlands. The researchers used family and cohort studies featuring families with hearing loss. By using exome sequencing and characterization of the hearing phenotype, researchers discovered a single genetic variant that was present in 39 of 40 family members with confirmed hearing loss. The genetic variant is identified as RIPOR2. In the study, this genetic variant was also found in two individuals without hearing loss, as well as in 18 of 22,952 randomly selected people for whom no hearing loss information is available.
The authors of the study estimate that the RIPOR2 variant is present in “more than 13,000 individuals who are therefore at risk of developing HL or have developed HL already due to this variant.” The study indicates that in northwest Europe alone, this genetic variant may be present in approximately 30,000 additional individuals, indicating their risk for adult-onset hearing loss.
While this genetic variant is quite common—meaning many people are at risk for this particular type of adult-onset hearing loss—the authors of the study are optimistic that gene therapy may hold promise for prevention. “Because of the large number of subjects estimated to be at risk for HL due to the […] RIPOR2 variant, it is an attractive target for the development of a genetic therapy. The great progress that is being made in hearing disorders is promising.” Now that a particular genetic variant tied to adult-onset hearing loss has been found, gene therapy can specifically target RIPOR2 in an effort to prevent or minimize hearing loss.
Of course, additional research remains to be done. While gene therapy can provide hope to those looking to prevent adult-onset hearing loss, the therapies must still be developed. Furthermore, researchers will continue to study particular genes that may be linked to hearing loss.
To learn more about adult-onset hearing loss and how gene therapy could help prevent hearing loss, we invite you to contact our hearing practice today. We are happy to answer your questions and provide you with the care you need.2020-11-18 16:35:47