The Kidney Foundation of Canada

2018 research awards 

Dr. Peter Santi

Regents of the University of Minnesota

Investigation of cochlear pathology and hearing loss in an X-linked mouse model of Alport syndrome

Co-applicant: Dr. Cliff Kashtan

2018-2020:  $100,000  |  Alport Syndrome Foundation Grants  |  Category: Alport syndrome

Lay Summary

Alport syndrome (AS) is primarily characterized by renal failure and deafness in humans due to the absence of type IV collagen 𝛂𝛂3.𝛂𝛂4.𝛂𝛂5 and the presence of 𝛂𝛂1.𝛂𝛂2.𝛂𝛂1 chains in basement membranes in kidney and cochlea. However, the site and mechanism for hearing loss in humans with AS is not yet known. We propose to examine hearing and cochlear basement membranes in X-linked mutant male mice that lack the 𝛂𝛂3.𝛂𝛂4.𝛂𝛂5 type IV collagen chains to determine if it mimics the human defect. Establishment of a murine model of AS is essential for the development and testing of early intervention therapies to prevent or minimize hearing loss in humans with AS, since renal dysfunction can be corrected with dialysis and kidney transplantation; whereas, hearing loss can only be treated using hearing aids.