CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro
Identifieur interne : 001502 ( Istex/Corpus ); précédent : 001501; suivant : 001503CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro
Auteurs : Julie Van Der Zee ; Hazel Urwin ; Sebastiaan Engelborghs ; Marc Bruyland ; Rik Vandenberghe ; Bart Dermaut ; Tim De Pooter ; Karin Peeters ; Patrick Santens ; Peter P. De Deyn ; Elizabeth M. Fisher ; John Collinge ; Adrian M. Isaacs ; Christine Van BroeckhovenSource :
- Human Molecular Genetics [ 0964-6906 ] ; 2008-01-15.
Abstract
The charged multivesicular body protein 2B gene (CHMP2B) was recently associated with frontotemporal lobar degeneration (FTLD) linked to chromosome 3 in a Danish FTLD family (FTD-3). In this family, a mutation in the acceptor splice site of exon 6 produced two aberrant transcripts predicting two C-truncated CHMP2B proteins due to a read through of intron 5 (p.Met178ValfsX2) and a cryptic splicing event within exon 6 (p.Met178LeufsX30). Extensive mutation analysis of CHMP2B in Belgian patients (N 146) identified one nonsense mutation in exon 5 (c.493C>T) in a familial FTLD patient, predicting a C-truncated protein p.Gln165X analogous to the Danish mutant proteins. Overexpression of Belgian p.Gln165X in human neuroblastoma SK-N-SH cells showed the formation of large, aberrant endosomal structures that were highly similar to those observed for Danish p.Met178ValfsX2. Together, these data suggest that C-truncating mutations in CHMP2B might underlie the pathogenic mechanism in FTLD by disturbing endosome function. We also describe a missense mutation in exon 5 of CHMP2B (p.Asn143Ser) in a familial patient with cortical basal degeneration. However, the pathogenic character of this mutation remains elusive.
Url:
DOI: 10.1093/hmg/ddm309
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<front><div type="abstract">The charged multivesicular body protein 2B gene (CHMP2B) was recently associated with frontotemporal lobar degeneration (FTLD) linked to chromosome 3 in a Danish FTLD family (FTD-3). In this family, a mutation in the acceptor splice site of exon 6 produced two aberrant transcripts predicting two C-truncated CHMP2B proteins due to a read through of intron 5 (p.Met178ValfsX2) and a cryptic splicing event within exon 6 (p.Met178LeufsX30). Extensive mutation analysis of CHMP2B in Belgian patients (N 146) identified one nonsense mutation in exon 5 (c.493C>T) in a familial FTLD patient, predicting a C-truncated protein p.Gln165X analogous to the Danish mutant proteins. Overexpression of Belgian p.Gln165X in human neuroblastoma SK-N-SH cells showed the formation of large, aberrant endosomal structures that were highly similar to those observed for Danish p.Met178ValfsX2. Together, these data suggest that C-truncating mutations in CHMP2B might underlie the pathogenic mechanism in FTLD by disturbing endosome function. We also describe a missense mutation in exon 5 of CHMP2B (p.Asn143Ser) in a familial patient with cortical basal degeneration. However, the pathogenic character of this mutation remains elusive.</div>
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<title-group><article-title><italic>CHMP2B</italic>
C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype <italic>in vitro</italic>
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<contrib-group><contrib contrib-type="author"><name><surname>van der Zee</surname>
<given-names>Julie</given-names>
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<xref ref-type="aff" rid="af2">2</xref>
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<contrib contrib-type="author"><name><surname>Urwin</surname>
<given-names>Hazel</given-names>
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<xref ref-type="aff" rid="af6">6</xref>
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<contrib contrib-type="author"><name><surname>Engelborghs</surname>
<given-names>Sebastiaan</given-names>
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<xref ref-type="aff" rid="af3">3</xref>
<xref ref-type="aff" rid="af4">4</xref>
<xref ref-type="aff" rid="af5">5</xref>
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<contrib contrib-type="author"><name><surname>Bruyland</surname>
<given-names>Marc</given-names>
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<contrib contrib-type="author"><name><surname>De Pooter</surname>
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<xref ref-type="aff" rid="af2">2</xref>
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<xref ref-type="aff" rid="af4">4</xref>
<xref ref-type="aff" rid="af5">5</xref>
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<contrib contrib-type="author"><name><surname>Fisher</surname>
<given-names>Elizabeth M.</given-names>
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<contrib contrib-type="author"><name><surname>Collinge</surname>
<given-names>John</given-names>
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<xref ref-type="aff" rid="af6">6</xref>
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<contrib contrib-type="author"><name><surname>Isaacs</surname>
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<aff id="af1"><label>1</label>
<addr-line>Neurodegenerative Brain Diseases Group, Department of Molecular Genetics</addr-line>
, <institution>VIB</institution>
</aff>
<aff id="af2"><label>2</label>
<addr-line>Laboratory of Neurogenetics</addr-line>
</aff>
<aff id="af3"><label>3</label>
<addr-line>Laboratory of Neurochemistry and Behavior</addr-line>
, <institution>Institute Born-Bunge</institution>
</aff>
<aff id="af4"><label>4</label>
<institution>University of Antwerp</institution>
</aff>
<aff id="af5"><label>5</label>
<addr-line>Memory Clinic, Department of Neurology</addr-line>
, <institution>ZNA Middelheim General Hospital</institution>
, <addr-line>Antwerpen</addr-line>
, <country>Belgium</country>
</aff>
<aff id="af6"><label>6</label>
<addr-line>MRC Prion Unit</addr-line>
</aff>
<aff id="af7"><label>7</label>
<addr-line>Department of Neurodegenerative Disease</addr-line>
, <institution>Institute of Neurology, University College London</institution>
, <addr-line>London</addr-line>
, <country>UK</country>
</aff>
<aff id="af8"><label>8</label>
<addr-line>Department of Neurology, AZ Zusters van Barmhartigheid, Ronse</addr-line>
, <country>Belgium</country>
</aff>
<aff id="af9"><label>9</label>
<addr-line>Department of Neurology</addr-line>
, <institution>University Hospital Gasthuisberg, University of Leuven</institution>
, <addr-line>Leuven</addr-line>
, <country>Belgium</country>
</aff>
<aff id="af10"><label>10</label>
<addr-line>Department of Neurology</addr-line>
, <institution>University Hospital Ghent, University of Ghent</institution>
, <addr-line>Gent</addr-line>
, <country>Belgium</country>
</aff>
<author-notes><corresp id="cor1"><label>*</label>
To whom correspondence should be addressed at: <addr-line>Department of Molecular Genetics, Neurodegenerative Brain Diseases Group</addr-line>
, <institution>VIB University of Antwerp—CDE</institution>
, <addr-line>Universiteitsplein 1, BE-2610 Antwerpen</addr-line>
, <country>Belgium</country>
. Tel: <phone>+32 32651001</phone>
; Fax: <fax>+32 32651012</fax>
; Email: <email>christine.vanbroeckhoven@ua.ac.be</email>
</corresp>
</author-notes>
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<month>1</month>
<year>2008</year>
</pub-date>
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<month>10</month>
<year>2007</year>
</pub-date>
<volume>17</volume>
<issue>2</issue>
<fpage>313</fpage>
<lpage>322</lpage>
<history><date date-type="received"><day>11</day>
<month>7</month>
<year>2007</year>
</date>
<date date-type="accepted"><day>16</day>
<month>10</month>
<year>2007</year>
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<copyright-statement>© 2007 The Author(s)</copyright-statement>
<copyright-year>2008</copyright-year>
<license license-type="creative-commons" xlink:href="http://creativecommons.org/licenses/by-nc/2.0/uk/"><p>This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.</p>
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<abstract><p>The charged multivesicular body protein 2B gene (<italic>CHMP2B</italic>
) was recently associated with frontotemporal lobar degeneration (FTLD) linked to chromosome 3 in a Danish FTLD family (FTD-3). In this family, a mutation in the acceptor splice site of exon 6 produced two aberrant transcripts predicting two C-truncated CHMP2B proteins due to a read through of intron 5 (p.Met178ValfsX2) and a cryptic splicing event within exon 6 (p.Met178LeufsX30). Extensive mutation analysis of <italic>CHMP2B</italic>
in Belgian patients (<italic>N</italic>
= 146) identified one nonsense mutation in exon 5 (c.493C>T) in a familial FTLD patient, predicting a C-truncated protein p.Gln165X analogous to the Danish mutant proteins. Overexpression of Belgian p.Gln165X in human neuroblastoma SK-N-SH cells showed the formation of large, aberrant endosomal structures that were highly similar to those observed for Danish p.Met178ValfsX2. Together, these data suggest that C-truncating mutations in <italic>CHMP2B</italic>
might underlie the pathogenic mechanism in FTLD by disturbing endosome function. We also describe a missense mutation in exon 5 of <italic>CHMP2B</italic>
(p.Asn143Ser) in a familial patient with cortical basal degeneration. However, the pathogenic character of this mutation remains elusive.</p>
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