Although medical technology has advanced in many areas, there are still conditions for which there is no truly effective treatment. Deafness is one such area in which regeneration is relatively limited and there are currently around 70 genes that are linked to the condition when mutated. However, in exciting research published in Science Translational Medicine, mice with a form of genetic deafness were essentially cured with viral gene therapy, providing proof of concept and offering hope that similar treatment could work in humans.
Two types of mutant mice were used in the study: one carrying a deletion of the TMC1 gene which encodes a key protein in hearing and mirrors recessive mutations in humans which triggers severe hearing loss by the age of 2. The other mouse had a specific amino acid substitution in only one copy of the gene, similar to the rarer, dominant dominant mutation which causes gradual deafness in early adolescence. Using a safe, adeno-associated virus (AAV1) to deliver a healthy copy, therapy was able to restore hearing in both models with varying success.
AAV1 is already used in human clinical trials and is considered safe, so it is likely with some streamlining and progress human trials will soon be on the horizon – especially as current treatment leaves much to be desired.
Read more at Science Daily