- Published on 25 February 2013
Researchers at Tel Aviv University have discovered that hearing loss may be linked to a genetic mutation.The researchers found 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.
The team, led by Karen Avraham discovered 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