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Our investigators take a number of approaches to one main goal: to develop novel methods for diagnosing and treating congenital hearing loss and ear malformations. Our basic science research focuses on developmental otology, auditory genetics, mitochondrial genetics and cochlear electrophysiology. Through our strong focus on translation of findings and collaboration with other clinician-scientists, we are working to turn cutting-edge research into cutting-edge care.
Under the direction of Min-Xin Guan, PhD, the Laboratory of Mitochondrial Genetics studies the role of mitochondrial mutations in hearing loss. This unique approach to the molecular biology of hearing and deafness has several clinical avenues of relevance.
First, mitochondrial DNA mutations have been linked with human hereditary hearing loss syndromes as well as age-related hearing loss. In addition, mitochondrial mutations have been associated with a predisposition of patients to hearing loss after receiving aminoglycoside antibiotics. Our research may lead to novel ways of diagnosing hearing loss in children and families as well as improved screening methods for children undergoing treatment with aminoglycoside antibiotics. The information generated from these mitochondrial studies may also lead to a better understanding of basic processes, such as the mechanisms of age-related hearing loss.
The Ear and Hearing Center has established a research section focused on cochlear electrophysiology. Our goal is to study the effects of specific gene mutations on the electrophysiology of the inner ear.
The cochlea contains a very specialized fluid (endolymph) that has an unusually high potassium concentration and low sodium concentration. This cochlear compartment also maintains a net 80 millivolt electrical charge that allows it to change incoming sounds into an electrical impulse that the brain can understand as a specific sound. This electrochemical potential is key to the very function of the cochlea.
By measuring the electrical and chemical potential in the cochleae of transgenic mice, we are working to determine the effects of specific gene mutations on cochlear function and how those gene mutations cause deafness. As an example, some of the most common deafness-causing genes are ion transporters, meaning they regulate how ions enter and exit the cochlear compartment. Therefore, it is imperative to understand how these genes affect the electrical and chemical environment in the cochlea.
Learn more about our research efforts within the Pediatric Otolaryngology / Head and Neck Surgery Division.
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