by Neil Bauman, Ph.D.
© July, 2013
Scientists have been uncovering more and more genetic mutations that result in hearing loss. In fact, genetic mutations are linked to about half of all cases of hearing loss. (1)
The latest discovery, reported here, is by Dr. Karen Avraham at Tel Aviv University in Israel. She and her team discovered a mutation of the Nesprin4 gene.
Using deep genetic sequencing, she discovered that certain people with hearing loss “had a mutated version of the Nesprin4 gene, a part of the LINC group of proteins” in the inner ear. (1)
The function of this protein is to anchor the cell nucleus to the inner wall of the cell. Without the Nesprin4 protein anchoring the cell nucleus to the bottom of the cell where it belongs, the nucleus instead floats throughout the cell. The result of this “wandering nucleus” causes the cell’s other components to reorient as well. This ultimately harms the polarity of the cells which, in turn, hinders the cell’s electrical activity such that it cannot receive important electrical signals that determine proper hearing. Thus, without the ability to receive these signals correctly, hearing loss results. (1) Now you know.
(1) Discovering the Missing “LINC” to Deafness. January 28, 2013. American Friends of Tel Aviv University.