How a Single Gene Links Vision and Hearing Loss
- Jan 27
- 2 min read
Updated: Jun 30
Story by CuriosiTEA JC Team
Original Research Article: Lee et al., The Journal of Clinical Investigation, 2025.
Scientists found that an ATF6 mutation (broken gene) causes both vision loss and hearing loss. People already knew this gene mattered for the eyes. A broken ATF6 can cause achromatopsia, which means a person can't see color. But this study found the same gene also matters for hearing. So one broken gene can hurt two senses at once.
Lots of people around the world have trouble seeing or hearing, and it can make everyday life harder. If scientists figure out which genes cause these problems, they can start working on better treatments. This study found something surprising. The damage doesn't come from an infection or an injury. It comes from cells not dealing with stress well, and it builds up slowly over time.
ATF6 helps cells handle stress in a part of the cell called the endoplasmic reticulum (ER). Kids born with a broken ATF6 gene already have color vision problems. So the scientists wanted to know: could the same broken gene also hurt hearing? And if it does, how?
This study came published in The Journal of Clinical Investigation on February 3, 2025. The researchers looked at patients with a broken ATF6 gene, and also at mice that were missing it. Both the people and the mice slowly lost their hearing. In the mice, scientists could see what was going wrong up close. Tiny cells in the ear called hair cells, which pick up sound, got messy and started to disappear. Without ATF6, these hearing cells were under more stress than normal. That extra stress made them weaker, so they couldn't keep doing their job.
This tells us that ATF6 helps protect sense cells in both the eyes and the ears. When the gene doesn't work, the cells can't handle stress and they slowly break down. That's probably why some patients with a broken ATF6 gene lose both their hearing and their vision. The researchers said ATF6 is really important for keeping the ear working right.
Someday, doctors might be able to help by lowering cell stress or boosting ATF6. That could protect both hearing and vision in people who have this gene problem. These ideas haven't been tested in real patients yet, so it's still early. But it gives scientists a new thing to try for these kinds of inherited problems.
Student Reflection: What surprised me most was that ATF6, a gene that just helps cells handle stress, can also cause a hearing problem. A question I still have is whether sense organs like the eyes and ears get hurt more easily than other organs. This connects to the real world because if a doctor knows a patient has the ATF6 vision condition, they could check that person's hearing early, before it gets worse, instead of waiting for the patient to notice it on their own.
