Advances in genetics have enabled scientists to identify genes that cause hearing loss. A substantial portion of people with nonsyndromic hearing loss have Connexin 26 disorder. This is a complex genetic disorder that leads to flawed copies of the gap junction beta 2 (GJB2) gene, which normally instructs a protein, Connexin 26 (CX26).
Everyone has two copies of this gene, but if each birth parent has a flawed copy of the GJB2/Connexin 26 gene, the baby may be born with a hearing loss. The hearing loss occurs because the mutation is suspected of disrupting potassium flow in the inner ear. In people without congenital hearing loss, connexin26 and connexin30 work together to form the cochlea's hybrid junction gaps, which facilitate intercellular communication. But when one of the proteins is missing, the hybrid junction gaps fail to work, and the cochlea's hair cells die off, leaving the body incapable of translating sounds into nerve impulses.
As described by Emma's and soon to be Harrison's ENT and surgeon; the inner ear in people with connexin 26 is like a marsh. And the grasses that live in a marsh become water logged, and eventually they wilt and die. The hairs inside the cochlea which transmit sound to the brain allowing us to hear, become water logged because of the potassium disruption and eventually wilt and die, usually before birth causing hearing loss.
Life's a Vacation - Enjoy the Ride = ROCKIN 2013
3 years ago