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Dr. Tempel’s research uses genetics as a starting point to study hearing loss. The complex structure of the auditory system and its demand for fast and precise encoding is the likely reason why there are a number of different gene mutations cause hearing loss. The fact that auditory malfunctions are not lethal to the organism makes genetic analysis of hearing loss a particularly useful way to probe the biological basis of deafness. Detailed studies on each gene provide information on how hearing happens and how it might be ameliorated in people with hearing loss.
Several mouse mutants being studied currently in the Tempel lab are involved in the transport of ions across excitable membranes. In deafwaddler mutant mice, even slight reductions in activity of the calcium ion pump PMCA2 cause high-frequency hearing loss in mice that is very similar to presbycusis in humans. In knockout mice that lack the genes Kv1.1 and Kv1.2, electrophysiology studies show that action potential transmission is altered in the auditory nuclei of these mice. Deafness in quivering mice is caused by mutations in a structural gene (spectrin beta 4) that anchors sodium channels at axon initial segments and at nodes of Ranvier.
Tempel’s group also uses quantitative trait locus (QTL) mapping techniques to identify chromosomal regions that make certain strains of mice resistant to noise and DNA microarray techniques to identify genes that are differentially expressed between noise-resistant and non-resistant strains of mice. The aim is to identify genes that contribute to making these mouse strains very resistant to noise exposure. We have recently (2014) identified 10 chromosomal regions that contain genes that provide very strong noise in two different strains of mice. Homologous genes in humans may be targets for therapeutic intervention.
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