DFNA2 is a type of inherited nonsyndromic progressive hearing loss. Hearing loss in DFNA2 families starts from high frequencies in the twenties or thirties, progressively affecting the mid and low frequencies later in life. Genetic analyses have demonstrated that mutations in the KCNQ4 gene, encoding a voltage-gated potassium channel, are responsible for DFNA2. Liping Nie, Ph.D., and colleagues are interested in how the KCNQ4 mutations lead to hearing loss.
Currently, the research work in Dr. Nie’s laboratory focuses on exterminating of the physiological role of KCNQ4 channels and impact of mutations in this channel on the auditory function. They have identified four KCNQ4 variants along with a series of proteins that regulate the channel function. In addition, they have demonstrated that the KCNQ4 channel and its interacting partners are differentially expressed along the tonotopic axis of the cochlea, consistent with the progressive nature of hearing loss in DFNA2. There is no doubt that these studies will improve our understanding of the basic mechanism of hearing and hearing loss, facilitating early diagnosis, prevention and even treatment of hearing loss.