Takako Makita
Medical University of South Carolina, SC·Genetics
Congenital deafness, meaning deafness present from birth, is one of the most common chronic conditions in infants, and most cases in developed countries have genetic causes. Yet the same disease-causing mutation can lead to severe hearing loss in one person and normal hearing in another.
- Fields
Genetics
Neuroscience
- Topics
hearing loss
congenital deafness
genetic modifiers
- Grants
- 1 known grant, through Aug 2027
What they work on
- Test whether the potassium channel Kir5.1, encoded by Kcnj16, changes the chance of hearing loss in Ednrb-deficient mice by affecting hair cell excitability and auditory neuron maturation.
- Determine how neuronal Dchs2, a cadherin-type adhesion molecule, affects the formation and function of auditory synapses in Ednrb-deficient mice on the genetically diverse ICR background.
- Follow up a completed genome-wide association study in outbred mice to explain why hearing loss shows up in only some animals carrying endothelin receptor mutations.
More about the research
Other genetic variants, called modifiers, shape the outcome, but almost nothing is known about what they are or how they work. This project looks for these modifiers using Waardenburg-Shah syndrome (WS4). In WS4, hearing loss appears in only some patients with Hirschsprung disease, a gut motility disorder, and both conditions are linked to mutations in endothelin signaling genes.
Why it matters
Knowing which modifier genes decide whether a deafness mutation actually causes hearing loss could improve diagnosis and prognosis for children with genetic hearing loss, starting with Waardenburg-Shah syndrome. It could also reveal new targets for therapy. The mechanisms found may also apply to a much wider range of congenital hearing disorders.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Lisa Goodrich
Harvard University, MA·Neuroscience
Define how the transcription factor Gata3 controls c-Maf and Mafb through effects on chromatin, using assays of chromatin structure and subtype-specific gene expression in spiral ganglion neurons.
Guy Perkins
University of Arizona, AZ·Neuroscience
Image aging spiral ganglion neurons and their connections from inner-ear hair cells to the cochlear nucleus with serial block-face electron microscopy (SBEM), looking for loss of myelin and synapses.
Ljiljana Pasa-Tolic
University of Arizona, AZ·Biochemistry
Refine a liquid chromatography–mass spectrometry (LC-MS) proteomics platform for sensitive, high-throughput protein profiling of single spiral ganglion neurons, which relay sound from the inner ear.
The school
Medical University of South Carolina: 19 labs on PI Pages, $321M a year on research, 271 research doctorates a year.
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