mutations in hereditary non-syndromic sensorineural deafness.
A somatic mutation in the GJB2 gene, which encodes the gap junction protein connexin 26
, has recently been implicated in the pathogenesis of PEODDN.
GJB2 encodes the gap junction protein Connexin 26
(CX26), which is expressed in the cochlea and plays an important role in endolymphatic potassium recycling.
Findings from a study appearing in Scientific Reports suggest a role for a combination of free radical scavengers in the prevention of a common form of hereditary deafness caused by mutations in the connexin 26
Structure of the connexin 26
gap junction channel at 3.
A study found that an antioxidant regimen of beta carotene (precursor to vitamin A), vitamins C and E and magnesium helped slow progression of hereditary deafness in mice, with a deletion in Connexin 26
gene a protein found on the gene and the most common cause of innate hearing loss,Health News reported.
15) This study showed that Cx43 was highly expressed in RA synovial membranes in comparison with OA or normal synovial membranes, but expression of connexin 26
or 32 was not observed (data not shown).
The connexin proteins are named according to their weight; connexin 26
is a protein with a molecular weight of 26 kDa.
Most nonsyndromic genetic hearing loss is autosomal recessive, with mutation in the connexin 26
protein being the most common.
Avraham of the Department of Human Molecular Genetics and Biochemistry at the University of Sackler Faculty of Medicine and Yehoash Raphael of the Department of Otolaryngology-Head and Neck Surgery at University of Michigan's Kresge Hearing Research Institute, doctoral student Shaked Shivatzki created a mouse population possessing the gene that produces the most prevalent form of hearing loss in humans: the mutated connexin 26
Novel mutations in the connexin 26
gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Connexins, hearing and deafness: clinical aspects of mutations in the connexin 26