ATP8B1 is essential for maintaining normal hearing

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

doi:https://doi.org/10.1073/pnas.0807919106

ATP8B1 is essential for maintaining normal hearing

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

Research output: Contribution to journal › Article › Academic › peer-review

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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

Original language	English
Pages (from-to)	9709-9714
Journal	PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Volume	106
Issue number	24
DOIs	https://doi.org/10.1073/pnas.0807919106
Publication status	Published - 2009

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https://doi.org/10.1073/pnas.0807919106

Cite this

Stapelbroek, J. M., Peters, T. A., van Beurden, D. H. A., Curfs, J. H. A. J., Joosten, A., Beynon, A. J., van Leeuwen, B. M., van der Velden, L. M., Bull, L., Oude Elferink, R. P., van Zanten, B. A., Klomp, L. W. J., & Houwen, R. H. J. (2009). ATP8B1 is essential for maintaining normal hearing. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 106(24), 9709-9714. https://doi.org/10.1073/pnas.0807919106

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title = "ATP8B1 is essential for maintaining normal hearing",

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",

author = "Stapelbroek, {Janneke M.} and Peters, {Theo A.} and {van Beurden}, {Denis H. A.} and Curfs, {Jo H. A. J.} and Anneke Joosten and Beynon, {Andy J.} and {van Leeuwen}, {Bibian M.} and {van der Velden}, {Lieke M.} and Laura Bull and {Oude Elferink}, {Ronald P.} and {van Zanten}, {Bert A.} and Klomp, {Leo W. J.} and Houwen, {Roderick H. J.}",

year = "2009",

doi = "https://doi.org/10.1073/pnas.0807919106",

language = "English",

volume = "106",

pages = "9709--9714",

journal = "PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA",

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Stapelbroek, JM, Peters, TA, van Beurden, DHA, Curfs, JHAJ, Joosten, A, Beynon, AJ, van Leeuwen, BM, van der Velden, LM, Bull, L, Oude Elferink, RP, van Zanten, BA, Klomp, LWJ & Houwen, RHJ 2009, 'ATP8B1 is essential for maintaining normal hearing', PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, vol. 106, no. 24, pp. 9709-9714. https://doi.org/10.1073/pnas.0807919106

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AU - Stapelbroek, Janneke M.

AU - Peters, Theo A.

AU - van Beurden, Denis H. A.

AU - Curfs, Jo H. A. J.

AU - Joosten, Anneke

AU - Beynon, Andy J.

AU - van Leeuwen, Bibian M.

AU - van der Velden, Lieke M.

AU - Bull, Laura

AU - Oude Elferink, Ronald P.

AU - van Zanten, Bert A.

AU - Klomp, Leo W. J.

AU - Houwen, Roderick H. J.

PY - 2009

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AB - 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

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