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Seniors' Health Channel
Reported January 28, 2013

Hearing Loss: A Genetic Mutation

(Ivanhoe Newswire) – Hearing loss has been linked to a genetic mutation, according to research at the Tel Aviv University.

Researchers discovered a genetic mutation in two families with hereditary high frequency hearing loss.  The mutated gene has not been previously linked to hearing loss.  It has NESP4, a protein expressed in the ONM (outer nuclear membrane) of the hair cells of the ear. 

Karen Avraham and her team found that NESP4 was mutated, disrupting a cellular complex, known as “the linker of nucleoskeleton and cytoskeleton” or LINC, which maintains the position of the nucleus within the cell. 

In the study, hair cells in mice lacking NESP4 or another component of the LINC complex, SUN1, developed normally.  However, the mice developed hearing loss as they grew. 

These results show that the LINC complex is essential for hearing and indicates that nuclear positioning is important for the maintenance of normal hearing.   

SOURCE:  Journal of Clinical Investigation, January 2013

 

 

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