Adding Missing Protein Reversed Genetic Hearing Loss in Mice Study

Adding Missing Protein Reversed Genetic Hearing Loss in Mice Studyc

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A protein was found in genetically deaf mice may help to treat deafness in humans and it could be reversible. Emory University School of Medicine researchers discovered that a protein called connexin26 may lead to reversing hearing loss in genetic cases. The study was first published in the Proceedings of the National Academy of Sciences.

"There are millions of deaf people affected by mutations in this one gene, connexin26," Xi (Erick) Lin, PhD, associate professor of otolaryngology and cell biology at Emory University School of Medicine, was lead author of the study said. "Congenital hearing loss is one of the most common human genetic birth defects, and that is why in almost all the states universal newborn hearing screening is mandated by law [including Georgia]."

By increasing the amount of the connexin26 protein in the ear’s cochlea may reverse the hearing loss in genetic cases with this mutation. The connexin26 mutation was first discovered 10 years ago and when present, most newborns are diagnosed with deafness at birth. Another important protein that is absent is called connexin30.

Both the connexin26 and connexin30 work in conjunction with each other to create the cochlea’s hybrid junction gaps. This aids in the intercellular communication. In the absence of one of the proteins, the system fails to create the hybrid junction gap. This further causes the cochlea’s hair cells to die off. The end result is deafness caused by an inability to translate sounds into nerve impulses.

Emory scientists along with researchers from the University of Bonn in Germany wanted to understand why the connexin26 mutation was playing a part in congenital deafness. Before the study, they knew that it was a genetic marker, they just didn’t know why this protein caused deafness.

"The deafness could have two very different explanations," Lin says. "Either hybrid gap junctions have special biophysical properties that cannot be replaced by gap junctions built with only one type of connexin, or mutations in one of the two connexins just cut the supply for making the gap junctions in half."

In their mice studies, Dr Lin and his colleagues added extra connexin26 to mice who were missing connexin30. The connexin26 addition improved the hearing was restored. They also never witness the hair cell death that would typically happen.

Dr. Lin concludes by saying, "The problem is simply caused by not having enough protein remaining in the ear of these mutant mice to assemble gap junctions."

Future research by Dr. Lin and his colleagues will be to see if connexin30 will help if connexin26 is absent and to see if they are able to reverse deafness in a mouse model.

What makes this study interesting is that much research with gene therapy has been going on. This is a totally different approach and may lead to a way to cure deafness in the future by adding back missing proteins.

By Mark Barone
Best Syndication Health Writer



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