Title |
ATP8B1 is essential for maintaining normal hearing
|
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Published in |
Proceedings of the National Academy of Sciences of the United States of America, June 2009
|
DOI | 10.1073/pnas.0807919106 |
Pubmed ID | |
Authors |
Janneke M. Stapelbroek, Theo A. Peters, Denis H. A. van Beurden, Jo H. A. J. Curfs, Anneke Joosten, Andy J. Beynon, Bibian M. van Leeuwen, Lieke M. van der Velden, Laura Bull, Ronald P. Oude Elferink, Bert A. van Zanten, Leo W. J. Klomp, Roderick H. J. Houwen |
Abstract |
ATP8B1 deficiency is caused by autosomal recessive mutations in ATP8B1, which encodes the putative phospatidylserine flippase ATP8B1 (formerly called FIC1). ATP8B1 deficiency is primarily characterized by cholestasis, but extrahepatic symptoms are also found. Because patients sometimes report reduced hearing capability, we investigated the role of ATP8B1 in auditory function. Here we show that ATP8B1/Atp8b1 deficiency, both in patients and in Atp8b1(G308V/G308V) mutant mice, causes hearing loss, associated with progressive degeneration of cochlear hair cells. Atp8b1 is specifically localized in the stereocilia of these hair cells. This indicates that the mechanosensory function and integrity of the cochlear hair cells is critically dependent on ATP8B1 activity, possibly through maintaining lipid asymmetry in the cellular membranes of stereocilia. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United Kingdom | 1 | 2% |
Unknown | 55 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 9 | 16% |
Researcher | 8 | 14% |
Student > Ph. D. Student | 8 | 14% |
Student > Doctoral Student | 5 | 9% |
Professor > Associate Professor | 5 | 9% |
Other | 10 | 18% |
Unknown | 11 | 20% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 19 | 34% |
Biochemistry, Genetics and Molecular Biology | 11 | 20% |
Medicine and Dentistry | 5 | 9% |
Neuroscience | 4 | 7% |
Mathematics | 1 | 2% |
Other | 3 | 5% |
Unknown | 13 | 23% |