Cochleovestibular fragility: the human and murine 22q11 Deletion syndrome model.
Annelore Willaert
Research Seminar
When?
Wednesday, 19 September 2018, 9:00-10:00
Where?
Seminar room HP1
O&N2, 4th floor, Gasthuisberg (KU Leuven)
Herestraat 49
B-3000 Leuven
Abstract
The 22q11 deletion syndrome (22q11DS) is the most common chromosomal microdeletion syndrome in humans, characterized mainly by various degrees of congenital heart disease, cleft palate and learning difficulties. Hearing loss is usually attributed to chronic middle ear disease, but recent research also shows an unexplained high rate of sensorineural hearing loss, as well as an abnormal equilibrium. We propose the concept of cochleovestibular fragility, referring to an increased vulnerability of the inner ear function in 22q11DS. As such, environmental factors such as high level noise exposure or middle ear infection lead to damage of the inner ear with sensorineural hearing loss, with a higher susceptibility than we would expect when compared to a healthy population. We investigate this hypothesis both by performing human clinical studies (on hearing and vestibular function, and on immunological factors in middle ear inflammation) and by histological research in a mouse model of 22q11DS, acknowledging the multifactorial influences.
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