Why do patients with Alport Syndrome lose their hearing?
Professor Dan Jagger, from the Ear Institute at University College London, has been awarded an Alport Research Hub project award of £250,000 to investigate the causes of hearing loss and problems with balance in patients with Alport syndrome and begin to look at potential new therapies to overcome its impact.
The problem
Alport syndrome is a rare, genetic kidney disorder which affects the formation of a protein called collagen IV. This collagen plays an important structural role in blood vessel walls, and changes can lead to progressive loss in kidney function.
Alport syndrome can also cause hearing loss and problems with balance although the biological causes of hearing loss in patients are not well understood and there is currently not a cure. Despite the use of hearing aids, patients often feel that their quality of life remained impacted.
The Alport Research Hub
The Stoneygate and Kidney Research UK Alport Research Hub, led by Professors Rachel Lennon, Daniel Gale and Neil Turner, has been designed to accelerate research, transform early diagnosis and to develop specific treatments for Alport syndrome.
The solution
Through the collaborative Alport Research Hub, this project aims to provide answers on the mechanisms underlying the inner ear pathway of the disease, offering hope for future treatment targets.
Professor Dan Jagger and the team will use laboratory models to study the hearing pathway of the inner ear. They will then compare how the disease affects the production and distribution of the type IV collagens as well as hearing ability. Next, they will look at whether the same changes occur in Alport syndrome patients with kidney problems.
As part of another ongoing study linked to the Alport Research Hub, Dan will then assess the use of gene therapy (a process by which a faulty gene is replaced or removed), as a potential to treat kidney failure and hearing loss in these patients.
Cochlea gap-junctions K-channels
Our inner ear produces specialised fluids that are essential for normal hearing to occur. Like in the kidney, the cells in the inner ear have to work hard to produce these distinct fluids, by transporting certain salts and molecules from one place to another. In this cross section, cells that secrete potassium are stained green, and those that supply the potassium are stained magenta/pink.
Utricle hair cells
Hair cells are the movement sensors of the hearing and balance organs. We can detect sounds and direction changes when these hair cells are activated by movements of the fluids in our inner ear. They get their name from a tiny motion-sensitive "hair bundle" (stained green) that projects upwards into a fluid-filled space.
Crista
When we spin around on a fairground ride the movement of fluids inner ear is sensed by motion-detecting cells called "hair cells", and these communicate with the brain so that we know what is happening to us. In this cross section, the mechanically sensitive "hair bundles" of these specialised cells are stained yellow.
What does this mean for patients?
The Stoneygate and Kidney Research UK Alport Research Hub is broadening research beyond the kidney to look at the wider impact of Alport syndrome as this is important to patients. This work will enable a better understanding of the underlying mechanisms involved in the hearing loss of Alport syndrome, to begin to explore treatments to slow or prevent hearing loss in these patients.
“Hearing loss and problems with balance in Alport syndrome patients has gone largely unrecognised for far too long which is why we have shaped the aims of our study from our conversations with patients.
By joining the collaborative Alport Research hub and leveraging our combination of specialities in the kidney and ear, we hope to improve the lives of those who are impacted by hearing loss.” Dan Jagger.
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