Gene carries the instruction of protein called connexin 26 (cx26). Gene with the mutation connected with a sensorineural hearing loss either alone or as part of a syndrome. Here we compare the properties of four cx26 mutants derived from point mutations associated with dominantly inherited hearing loss, either non-syndromic (W44S, R75W) or with different skin disorders (G59A, D66H, R75W). And hearing loss due to mutations in gene occurs.
What is Connexin Gene 26?
Connexin 26 (Cx26) is a protein present on the (GJB2) quality. And it is the most well-known reason for innate sensorineural hearing loss. It changes are in charge of in any event 20% of all hereditary hearing misfortune and 10% of all youth hearing misfortune. Kids born with bilateral (both ears) severe to profound sensorineural hearing losses. Generally, refer to the Connexin 26 mutations test.
For what reason do we need Connexin 26 to hear?
The GJB2 quality contains the directions for assembling various proteins, including Connexin 26. Connexin proteins all are designated “hole intersection proteins”. They are fundamental for cells to speak with one another. Without adequate dimensions of Connexin 26. The potassium stream from hair cells in the cochlea disturbs. As a result in very elevated amounts of potassium in the Corti s organ, prompting the significant sensorineural hearing misfortune.
A particular interdisciplinary group of experts is important to treat the majority of the issues related to the Connexin 26 transformation. This gathering of people ought to incorporate an Otologist or Otolaryngologists, audiologists, language pathologists, a clinical geneticist, and a hereditary advocate. These people should have broad involvement in pediatrics.