Defective membrane expression of the <script type="math/tex">Na^{+}-HCO_{3}$-</tex> cotransporter NBCe1 is associated with familial migraine

Suzuki, Masashi; van Paesschen, Wim; Stalmans, Ingeborg; Horita, Shoko; Yamada, Hideomi; Bergmans, Bruno A.; Legius, Eric; Riant, Florence; De Jonghe, Peter; Li, Yuehong; Sekine, Takashi; Igarashi, Takashi; Fujimoto, Ichiro; Mikoshiba, Katsuhiko; Shiohara, Masaaki; Braverman, Nancy; al-Gazali, Lihadh; Fujita, Toshiro; Seki, George

doi:10.1073/PNAS.1008705107

Publication

Title

Defective membrane expression of the $Na^{+}-HCO_{3}$-</tex> cotransporter NBCe1 is associated with familial migraine </span> </div> </td></tr><tr><td></td></tr> <tr> <td class="opacfulldescriptionlabel"> Author </td> <td width="3"></td> <td></td><td style="width:3"> </td><td><div style="min-width:25em"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('SUZUKI MASASHI~author'); return false;" href="#"> Suzuki, Masashi </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('VAN PAESSCHEN WIM~author'); return false;" href="#"> van Paesschen, Wim </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('STALMANS INGEBORG~author'); return false;" href="#"> Stalmans, Ingeborg </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('HORITA SHOKO~author'); return false;" href="#"> Horita, Shoko </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('YAMADA HIDEOMI~author'); return false;" href="#"> Yamada, Hideomi </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('BERGMANS BRUNO A~author'); return false;" href="#"> Bergmans, Bruno A. </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('LEGIUS ERIC~author'); return false;" href="#"> Legius, Eric </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('RIANT FLORENCE~author'); return false;" href="#"> Riant, Florence </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('a::920.50889~authorac'); return false;" href="#"><em> De Jonghe, Peter </em> </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('LI YUEHONG~author'); return false;" href="#"> Li, Yuehong </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('SEKINE TAKASHI~author'); return false;" href="#"> Sekine, Takashi </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('IGARASHI TAKASHI~author'); return false;" href="#"> Igarashi, Takashi </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('FUJIMOTO ICHIRO~author'); return false;" href="#"> Fujimoto, Ichiro </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('MIKOSHIBA KATSUHIKO~author'); return false;" href="#"> Mikoshiba, Katsuhiko </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('SHIOHARA MASAAKI~author'); return false;" href="#"> Shiohara, Masaaki </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('BRAVERMAN NANCY~author'); return false;" href="#"> Braverman, Nancy </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('AL GAZALI LIHADH~author'); return false;" href="#"> al-Gazali, Lihadh </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('FUJITA TOSHIRO~author'); return false;" href="#"> Fujita, Toshiro </a> </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatau"> <a onclick="OPAC.searchexplorator('SEKI GEORGE~author'); return false;" href="#"> Seki, George </a> </span> </div> </td></tr><tr><td></td></tr> <tr> <td class="opacfulldescriptionlabel"> Abstract </td> <td width="3"></td> <td></td><td style="width:3"> </td><td><div style="min-width:25em"> <table> <tr> <td><span class="opaccatin">Homozygous mutations in SLC4A4, encoding the electrogenic Na+-HCO3− cotransporter NBCe1, have been known to cause proximal renal tubular acidosis (pRTA) and ocular abnormalities. In this study, we report two sisters with pRTA, ocular abnormalities, and hemiplegic migraine. Genetic analysis ruled out pathological mutations in the known genes for familial hemiplegic migraine, but identified a homozygous 65-bp deletion (Δ65bp) in the C terminus of NBCe1, corresponding to the codon change S982NfsX4. Several heterozygous members of this family also presented glaucoma and migraine with or without aura. Despite the normal electrogenic activity in Xenopus oocytes, the Δ65bp mutant showed almost no transport activity due to a predominant cytosolic retention in mammalian cells. Furthermore, coexpression experiments uncovered a dominant negative effect of the mutant through hetero-oligomer formation with wild-type NBCe1. Among other pRTA pedigrees with different NBCe1 mutations, we identified four additional homozygous patients with migraine. The immunohistological and functional analyses of these mutants demonstrate that the near total loss of NBCe1 activity in astrocytes can cause migraine potentially through dysregulation of synaptic pH.</span></td></tr> </table> </div> </td></tr><tr><td></td></tr> <tr> <td class="opacfulldescriptionlabel"> Language </td> <td width="3"></td> <td></td><td style="width:3"> </td><td><div style="min-width:25em"> <span class="opaccatlg"> English </span> </div> </td></tr><tr><td></td></tr> <tr> <td class="opacfulldescriptionlabel"> Source (journal) </td> <td width="3"></td> <td></td><td style="width:3"> </td><td><div style="min-width:25em"> <span class="opaccatre">Proceedings of the National Academy of Sciences of the United States of America. - Washington, D.C.</span> </div> </td></tr><tr><td></td></tr> <tr> <td class="opacfulldescriptionlabel"> Publication </td> <td width="3"></td> <td></td><td style="width:3"> </td><td><div style="min-width:25em"> <span class="opaccatimpl"> Washington, D.C. </span> : <span class="opaccatimug"> </span> <span class="opaccatimju">2010 </span> </div> </td></tr><tr><td></td></tr> <tr> <td class="opacfulldescriptionlabel"> ISSN </td> <td width="3"></td> <td></td><td style="width:3"> </td><td><div style="min-width:25em"> <span class="opaccatnr"> 0027-8424 [Print] </span> </div> <div style="min-width:25em;margin-bottom:3px;margin-top:3px"> <span class="opaccatnr"> 1091-6490 [Online] </span> </div> </td></tr><tr><td></td></tr> <tr> <td class="opacfulldescriptionlabel"> DOI </td> <td width="3"></td> <td></td><td style="width:3"> </td><td><div style="min-width:25em"> <span class="opaccatnr"> 10.1073/PNAS.1008705107 </span> </div> </td></tr><tr><td></td></tr> <tr> <td class="opacfulldescriptionlabel"> Volume/pages </td> <td width="3"></td> <td></td><td style="width:3"> </td><td><div style="min-width:25em"> <span class="opaccatco"> 107 :36 (2010) , p. 15963-15968 </span> </div> </td></tr><tr><td></td></tr> <tr> <td class="opacfulldescriptionlabel"> ISI </td> <td width="3"></td> <td></td><td style="width:3"> </td><td><div style="min-width:25em"> <span class="opaccatnr"> 000281637800061 </span> </div> </td></tr><tr><td></td></tr> <tr> <td class="opacfulldescriptionlabel"> Full text (Publisher's DOI) </td> <td width="3"></td> <td></td><td style="width:3"> </td><td><div style="min-width:25em"> <table> <tr> <td> <span class="opaccatin"> <a href="https://doi.org/10.1073/PNAS.1008705107" onclick='contentscreenmax = window.open("https://doi.org/10.1073/PNAS.1008705107", "contentscreenmax", "toolbar=yes,location=yes,menubar=yes,directories=yes,status=yes,scrollbars=yes,resizable=yes,copyhistory=no, width=700,height=500") ; contentscreenmax.focus(); return false;'>https://doi.org/10.1073/PNAS.1008705107</a></span> </td> </tr> </table> </div> </td></tr><tr><td></td></tr> </table> </td></tr> <tr class="opacfulldescriptionblockheaderrow"> <td class="opacfulldescriptionblockheader" colspan="10">UAntwerpen</td> </tr> <tr class ="opacfulldescriptionblockrow"> <td colspan="2"> <table class="opacfulldescriptionblock"> <tr> <td class="opacfulldescriptionlabel"> Faculty/Department </td> <td width="3"></td> <td></td><td style="width:3"> </td><td><div style="min-width:25em"> <span class="opaccatow"> <a onclick="OPAC.searchexplorator('a::irc.7~facultyac'); return false;" href="#"> Faculty of Pharmaceutical, Biomedical and Veterinary Sciences . 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27.10.2010

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18.08.2024

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https://hdl.handle.net/10067/844370151162165141