The Jaina Doctrine of Karma And The Science Of Genetics: Deafness Disease

Fig. 46: Connexin 26 (GJB2) is one of the main proteins involved in potassium (K+) homeostasis in the cochlea of the inner ear. It is found in the supporting cells. fibrocytes of the spiral ligament and in cells of the spiral limbus. [Adapted from Steel, K.P. (1999) Science 285. 1363-1364, with permission]

Hearing impairment is extremely common among human beings and can present itself at any time from infancy to old age. About 1 in 1000 infants has profound hearing impairment and half of it is thought to be of genetic origin. Many deafness genes exist, but the most common cause of hearing loss in American and European populations is a mutation in the connexin 26 (c x 26) gene. C x 26 has a carrier rate of 3%, similar to that for cystic fibrosis, and it causes about 20% of childhood deafness. It has been proposed that mutations in c x 26 may disrupt potassium circulation and result in deafness. The discovery that c x 26 mutations are a cause of congenital hearing loss can help in the early diagnosis of hearing impairment. Early identification and management of deafness is important for the development of language and social skills.^[40]