A model for gene therapy of human hereditary lymphedema
Identifieur interne : 000B82 ( Pmc/Curation ); précédent : 000B81; suivant : 000B83A model for gene therapy of human hereditary lymphedema
Auteurs : Marika J. Karkkainen [Finlande] ; Anne Saaristo [Finlande] ; Lotta Jussila [Finlande] ; Kaisa A. Karila [Finlande] ; Elizabeth C. Lawrence [États-Unis] ; Katri Pajusola [Suisse] ; Hansruedi Bueler [Suisse] ; Anne Eichmann [France] ; Risto Kauppinen ; Mikko I. Kettunen ; Seppo Yl Herttuala [Finlande] ; David N. Finegold [États-Unis] ; Robert E. Ferrell [États-Unis] ; Kari Alitalo [Finlande]Source :
- Proceedings of the National Academy of Sciences of the United States of America [ 0027-8424 ] ; 2001.
Abstract
Primary human lymphedema (Milroy's disease), characterized by a chronic and disfiguring swelling of the extremities, is associated with heterozygous inactivating missense mutations of the gene encoding vascular endothelial growth factor C/D receptor (VEGFR-3). Here, we describe a mouse model and a possible treatment for primary lymphedema. Like the human patients, the lymphedema (Chy) mice have an inactivating
Url:
DOI: 10.1073/pnas.221449198
PubMed: 11592985
PubMed Central: 60113
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A model for gene therapy of human hereditary lymphedema</title>
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<author><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N." last="Finegold">David N. Finegold</name>
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<author><name sortKey="Alitalo, Kari" sort="Alitalo, Kari" uniqKey="Alitalo K" first="Kari" last="Alitalo">Kari Alitalo</name>
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<series><title level="j">Proceedings of the National Academy of Sciences of the United States of America</title>
<idno type="ISSN">0027-8424</idno>
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<front><div type="abstract" xml:lang="en"><p>Primary human lymphedema (Milroy's disease), characterized by a chronic and disfiguring swelling of the extremities, is associated with heterozygous inactivating missense mutations of the gene encoding vascular endothelial growth factor C/D receptor (VEGFR-3). Here, we describe a mouse model and a possible treatment for primary lymphedema. Like the human patients, the lymphedema (Chy) mice have an inactivating <italic>Vegfr3</italic>
mutation in their germ line, and swelling of the limbs because of hypoplastic cutaneous, but not visceral, lymphatic vessels. Neuropilin (NRP)-2 bound VEGF-C and was expressed in the visceral, but not in the cutaneous, lymphatic endothelia, suggesting that it may participate in the pathogenesis of lymphedema. By using virus-mediated VEGF-C gene therapy, we were able to generate functional lymphatic vessels in the lymphedema mice. Our results suggest that growth factor gene therapy is applicable to human lymphedema and provide a paradigm for other diseases associated with mutant receptors.</p>
</div>
</front>
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<front><journal-meta><journal-id journal-id-type="nlm-ta">Proc Natl Acad Sci U S A</journal-id>
<journal-id journal-id-type="publisher-id">PNAS</journal-id>
<journal-title>Proceedings of the National Academy of Sciences of the United States of America</journal-title>
<issn pub-type="ppub">0027-8424</issn>
<issn pub-type="epub">1091-6490</issn>
<publisher><publisher-name>The National Academy of Sciences</publisher-name>
</publisher>
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<article-meta><article-id pub-id-type="pmid">11592985</article-id>
<article-id pub-id-type="pmc">60113</article-id>
<article-id pub-id-type="publisher-id">221449198</article-id>
<article-id pub-id-type="publisher-id">4491</article-id>
<article-id pub-id-type="doi">10.1073/pnas.221449198</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Biological Sciences</subject>
<subj-group><subject>Medical Sciences</subject>
</subj-group>
</subj-group>
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<title-group><article-title>A model for gene therapy of human hereditary lymphedema</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Karkkainen</surname>
<given-names>Marika J.</given-names>
</name>
<xref ref-type="aff" rid="N0x96ce330.0x9c8f8a0">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Saaristo</surname>
<given-names>Anne</given-names>
</name>
<xref ref-type="aff" rid="N0x96ce330.0x9c8f8a0">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Jussila</surname>
<given-names>Lotta</given-names>
</name>
<xref ref-type="aff" rid="N0x96ce330.0x9c8f8a0">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Karila</surname>
<given-names>Kaisa A.</given-names>
</name>
<xref ref-type="aff" rid="N0x96ce330.0x9c8f8a0">*</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Lawrence</surname>
<given-names>Elizabeth C.</given-names>
</name>
<xref ref-type="aff" rid="N0x96ce330.0x9c8f8a0">†</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Pajusola</surname>
<given-names>Katri</given-names>
</name>
<xref ref-type="aff" rid="N0x96ce330.0x9c8f8a0">‡</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bueler</surname>
<given-names>Hansruedi</given-names>
</name>
<xref ref-type="aff" rid="N0x96ce330.0x9c8f8a0">‡</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Eichmann</surname>
<given-names>Anne</given-names>
</name>
<xref ref-type="aff" rid="N0x96ce330.0x9c8f8a0">§</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kauppinen</surname>
<given-names>Risto</given-names>
</name>
<xref ref-type="aff" rid="N0x96ce330.0x9c8f8a0">¶</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kettunen</surname>
<given-names>Mikko I.</given-names>
</name>
<xref ref-type="aff" rid="N0x96ce330.0x9c8f8a0">¶</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ylä-Herttuala</surname>
<given-names>Seppo</given-names>
</name>
<xref ref-type="aff" rid="N0x96ce330.0x9c8f8a0">‖</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Finegold</surname>
<given-names>David N.</given-names>
</name>
<xref ref-type="aff" rid="N0x96ce330.0x9c8f8a0">†</xref>
<xref ref-type="aff" rid="N0x96ce330.0x9c8f8a0">**</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ferrell</surname>
<given-names>Robert E.</given-names>
</name>
<xref ref-type="aff" rid="N0x96ce330.0x9c8f8a0">†</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Alitalo</surname>
<given-names>Kari</given-names>
</name>
<xref ref-type="aff" rid="N0x96ce330.0x9c8f8a0">*</xref>
<xref ref-type="author-notes" rid="FN164">‡‡</xref>
</contrib>
</contrib-group>
<aff id="N0x96ce330.0x9c8f8a0"><label>*</label>
Molecular/Cancer Biology Laboratory and Ludwig Institute for Cancer Research, Haartman Institute and Helsinki University Hospital, Biomedicum Helsinki, University of Helsinki, P.O.B. 63 (Haartmaninkatu 8), 00014 Helsinki, Finland;<label>†</label>
Department of Human Genetics, University of Pittsburgh, 130 DeSoto Street, Pittsburgh, PA 15261;<label>‡</label>
Institute of Molecular Biology, University of Zürich, Winterthurerstrasse 190, 8057 Zürich, Switzerland;<label>§</label>
Institut d'Embryologie Cellulaire et Moléculaire du Centre National de la Recherche Scientifique et du Collège de France 49bis, Avenue de la Belle Gabrielle, 94736 Nogent-sur-Marne Cedex, France;<label>¶</label>
National Bio-Nuclear Magnetic Resonance Facility and<label>‖</label>
Department of Medicine, A.I. Virtanen Institute, University of Kuopio, P.O.B. 1627, 70211 Kuopio, Finland; and<label>**</label>
Department of Pediatrics, University of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA 15213</aff>
<author-notes><fn id="FN164"><label>‡‡</label>
<p>To whom reprint requests should be addressed at: Molecular/Cancer Biology Laboratory, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 3, SF-00290 Helsinki, Finland. E-mail: <email>kari.alitalo@helsinki.fI</email>
.</p>
</fn>
<fn><p>Communicated by Erkki Ruoslahti, The Burnham Institute, La Jolla, CA</p>
</fn>
</author-notes>
<pub-date pub-type="ppub"><day>23</day>
<month>10</month>
<year>2001</year>
</pub-date>
<pub-date pub-type="epub"><day>9</day>
<month>10</month>
<year>2001</year>
</pub-date>
<volume>98</volume>
<issue>22</issue>
<fpage>12677</fpage>
<lpage>12682</lpage>
<history><date date-type="received"><day>11</day>
<month>7</month>
<year>2001</year>
</date>
<date date-type="accepted"><day>24</day>
<month>8</month>
<year>2001</year>
</date>
</history>
<copyright-statement>Copyright © 2001, The National Academy of Sciences</copyright-statement>
<copyright-year>2001</copyright-year>
<abstract><p>Primary human lymphedema (Milroy's disease), characterized by a chronic and disfiguring swelling of the extremities, is associated with heterozygous inactivating missense mutations of the gene encoding vascular endothelial growth factor C/D receptor (VEGFR-3). Here, we describe a mouse model and a possible treatment for primary lymphedema. Like the human patients, the lymphedema (Chy) mice have an inactivating <italic>Vegfr3</italic>
mutation in their germ line, and swelling of the limbs because of hypoplastic cutaneous, but not visceral, lymphatic vessels. Neuropilin (NRP)-2 bound VEGF-C and was expressed in the visceral, but not in the cutaneous, lymphatic endothelia, suggesting that it may participate in the pathogenesis of lymphedema. By using virus-mediated VEGF-C gene therapy, we were able to generate functional lymphatic vessels in the lymphedema mice. Our results suggest that growth factor gene therapy is applicable to human lymphedema and provide a paradigm for other diseases associated with mutant receptors.</p>
</abstract>
</article-meta>
</front>
</pmc>
</record>
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