News & Research
2014
Study linking thyroid imbalance and newborn deafness
A study published in the August publication of Mammalian Genome may have discovered a major breakthrough in the prevention of SLC26A4 associated deafness [1]. The study, conducted in mutant mouse lines, indicates that the SLC26A4 mutation prevents thyroid hormones vital to normal ear development from reaching the ear, resulting in deafness. In the next stage of this study, the researchers are treating the mice with the SLC26A4 mutations with the synthetic thyroid hormone levothyroxine, a drug already approved by the FDA for use by pregnant women. The researchers predict that the treatment will prevent the mice offspring from being born deaf.
2013
Restoration of hearing and balance in mutant mice
Mutant mouse lines with complete knock-outs of the SLC26A4 gene homolog are born with severely impaired hearing capabilities. In this study researchers performed a knock-down of the Slc26a4 gene that maintained expression of the SLC26A4 gene in the inner ear's endolymphatic sac but not in the cochlea or vestibular organs, the resulting mouse developed normal hearing and balance [2]. The researchers predict that repairing the endolymphatic sac during embryonic development is sufficient to rescue the phenotype and restore normal hearing for the individual.
Hereditary deafness research
References
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[1] Dror AA, et. al. (2014). Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness. Mamm Genome. doi: 10.1007/s00335-014-9515-1
[2] Wangemann P, et. al. (2013). SLC26A4 Targeted to the Endolymphatic Sac Rescues Hearing and Balance in Slc26a4 Mutant Mice. Plos Genetics. doi: 10.1371/journal.pgen.1003641
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[1] Dror AA, et. al. (2014). Atrophic thyroid follicles and inner ear defects reminiscent of cochlear hypothyroidism in Slc26a4-related deafness. Mamm Genome. doi: 10.1007/s00335-014-9515-1
[2] Wangemann P, et. al. (2013). SLC26A4 Targeted to the Endolymphatic Sac Rescues Hearing and Balance in Slc26a4 Mutant Mice. Plos Genetics. doi: 10.1371/journal.pgen.1003641