Related Experiment Video
Updated: May 22, 2026
Modified Experimental Conditions for Noise-Induced Hearing Loss in Mice and Assessment of Hearing Function and Outer Hair Cell Damage
Published on: February 10, 2023
DFNA5, a gene involved in hearing loss and cancer: a review
Ken Op de Beeck1, Lut Van Laer, Guy Van Camp
1Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Objectives:
The DFNA5 gene was identified in 1998 as a gene that causes an autosomal dominant form of hearing impairment. Five different DFNA5 mutations have been found; each results in skipping of exon 8 at the messenger RNA level. This finding indicates that DFNA5-associated hearing loss is attributable to a highly specific gain-of-function mutation. Interestingly, later reports revealed that DFNA5 also plays a role in tumor biology.
Methods:
Recent data have shed more light on the biological function of DFNA5. Through a literature search, the current knowledge of this gene is reviewed.
Results:
DFNA5 is the first gene for monogenic deafness that is known to involve apoptosis as a disease mechanism--a mechanism that was shown to be involved in frequent types of hearing loss caused by age, noise, or drugs. In line with its apoptosis-inducing properties, DFNA5 is a tumor suppressor gene with an important role in major types of tumors.
Conclusions:
DFNA5 is a tumor suppressor gene that is involved in apoptosis pathways and as such performs a basic role in cell survival. In view of the known role of apoptosis in several forms of hearing loss, DFNA5 may be a player in the underlying disease mechanisms.
Related Concept Videos
01:12Loss of Tumor Suppressor Gene Functions
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
01:12Loss of Tumor Suppressor Gene Functions
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
01:05Cancer-Critical Genes II: Tumor Suppressor Genes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
01:33Cancer-Critical Genes I: Proto-oncogenes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
01:33Cancer-Critical Genes I: Proto-oncogenes
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...