- Published on 23 April 2014
Genetic mutations in the GJB2 gene, encoding Connexin 26 which is involved in diffusion of materials between cells, are the most common cause of genetic hearing loss. These mutations represent up to half of cases of recessive genetic deafness. The hearing loss may be mild to profound and is usually stable, but in some patients it may be progressive. The underlying etiological mechanisms are however unknown.
A team of researchers from the University of Michigan, Department of Otolaryngology, and the University of Florida, Department of Speech, Language, and Hearing Sciences report an interesting clinical case of a child with GJB2-related congenital deafness whose condition ameliorated on vitamin and mineral supplementation.
The patient had progressive hearing loss of 3.71 dB/year on average from age 2 to age 9. At this age, he was started on ACEMg supplementation consisting of a daily regimen of beta-carotene (25,000 IU), vitamin C (10,000 IU), vitamin E (400 IU), and magnesium (167 mg), a promising but untested treatment option according to the authors. On the basis of routine otoscopic examinations and pure tone clinical audiometry, three-year follow-up showed that there was no further progression of hearing loss.
The clinicians concluded that “It is thus not unreasonable to assume that oral treatment with ACEMg may be responsible for reduced ototoxic stress, improved viability of hair cells and hearing preservation in this child with Connexin 26 hearing loss.” The team suggests that antioxidants should be evaluated in a larger therapeutic trial.Source: Thatcher A et al. ACEMg supplementation ameliorates progressive Connexin 26 hearing loss in a child. International Journal of Pediatric Otorhinolaryngology. 2014.