Scientists from the University of Miami have found that inherited mutations in the MINAR2 gene caused deafness in four families.
The authors believe the progressive nature of this hearing loss, in some affected individuals and in mice, could offer opportunities for treatment.
The research is published in PNAS and was conducted by Mustafa Tekin et al.
The gene variation mostly affects the inner ear hair cells, which are critical to hearing.
The team says MINAR2 plays a major role in hearing, and these inherited mutations lead to sensorineural deafness.
In this study, they found DNA variants in MINAR2, which had only recently been described in the research literature. Scientists are still filling in the blanks on the gene’s function.
Having identified the variations in MINAR2 in one family, the team searched their database and found a second family with a different mutation in the same gene.
Further research confirmed their findings in animal studies and identified three different MINAR2 mutations, which caused deafness in 13 people from four families.
The team found this gene serves an important function. The protein localizes in hair cells and other areas that are critical to hearing.
Hair cells convert sound into electrical signals, which are then sent to the brain. Normally, when children are born deaf, they have few if any living hair cells.
As a result, gene therapies and other regenerative efforts would likely fail. However, in the mouse knockout model of MINAR2, hair cells remain alive until a later age. This gradual loss of hearing could allow for treatment.
The team says the findings suggest a window of opportunity to provide treatment. We could insert the normal gene and potentially restore hearing.
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