A model for gene therapy of human hereditary lymphedema
Identifieur interne : 000708 ( France/Analysis ); précédent : 000707; suivant : 000709A 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.
Descripteurs français
- KwdFr :
- Adenoviridae (génétique), Animaux, Dependovirus (génétique), Données de séquences moléculaires, Facteur de croissance endothéliale vasculaire de type C, Facteurs de croissance endothéliale (génétique), Facteurs de croissance endothéliale (métabolisme), Humains, Lymphoedème (), Modèles animaux de maladie humaine, Mâle, Neuropiline 1, Protéines de tissu nerveux (analyse), Récepteur facteur croissance (physiologie), Récepteur-3 au facteur croissance endothéliale vasculaire, Récepteurs à activité tyrosine kinase (physiologie), Souris, Souris de lignée BALB C, Souris de lignée C3H, Séquence d'acides aminés, Thérapie génétique.
- MESH :
- analyse : Protéines de tissu nerveux.
- génétique : Adenoviridae, Dependovirus, Facteurs de croissance endothéliale.
- métabolisme : Facteurs de croissance endothéliale.
- physiologie : Récepteur facteur croissance, Récepteurs à activité tyrosine kinase.
- Animaux, Données de séquences moléculaires, Facteur de croissance endothéliale vasculaire de type C, Humains, Lymphoedème, Modèles animaux de maladie humaine, Mâle, Neuropiline 1, Récepteur-3 au facteur croissance endothéliale vasculaire, Souris, Souris de lignée BALB C, Souris de lignée C3H, Séquence d'acides aminés, Thérapie génétique.
English descriptors
- KwdEn :
- Adenoviridae (genetics), Amino Acid Sequence, Animals, Dependovirus (genetics), Disease Models, Animal, Endothelial Growth Factors (genetics), Endothelial Growth Factors (metabolism), Genetic Therapy, Humans, Lymphedema (therapy), Male, Mice, Mice, Inbred BALB C, Mice, Inbred C3H, Molecular Sequence Data, Nerve Tissue Proteins (analysis), Neuropilin-1, Receptor Protein-Tyrosine Kinases (physiology), Receptors, Growth Factor (physiology), Vascular Endothelial Growth Factor C, Vascular Endothelial Growth Factor Receptor-3.
- MESH :
- chemical , analysis : Nerve Tissue Proteins.
- chemical , genetics : Endothelial Growth Factors.
- genetics : Adenoviridae, Dependovirus.
- chemical , metabolism : Endothelial Growth Factors.
- chemical , physiology : Receptor Protein-Tyrosine Kinases, Receptors, Growth Factor.
- therapy : Lymphedema.
- Amino Acid Sequence, Animals, Disease Models, Animal, Genetic Therapy, Humans, Male, Mice, Mice, Inbred BALB C, Mice, Inbred C3H, Molecular Sequence Data, Neuropilin-1, Vascular Endothelial Growth Factor C, Vascular Endothelial Growth Factor Receptor-3.
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
Affiliations:
- Finlande, France, Suisse, États-Unis
- Canton de Zurich, Pennsylvanie, Uusimaa
- Helsinki, Zurich
- Université d'Helsinki, Université de Zurich
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PMC:60113Le document en format XML
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<affiliation wicri:level="1"><nlm:aff wicri:cut="; and" id="N0x96ce330.0x9c8f8a0">Department of Medicine, A.I. Virtanen Institute, University of Kuopio, P.O.B. 1627, 70211 Kuopio, Finland</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Department of Medicine, A.I. Virtanen Institute, University of Kuopio, P.O.B. 1627, 70211 Kuopio</wicri:regionArea>
<wicri:noRegion>70211 Kuopio</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N." last="Finegold">David N. Finegold</name>
<affiliation wicri:level="2"><nlm:aff id="N0x96ce330.0x9c8f8a0">Department of Human Genetics, University of Pittsburgh, 130 DeSoto Street, Pittsburgh, PA 15261;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Human Genetics, University of Pittsburgh, 130 DeSoto Street, Pittsburgh</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="N0x96ce330.0x9c8f8a0">Department of Pediatrics, University of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA 15213</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, University of Pittsburgh, 3705 Fifth Avenue, Pittsburgh</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Ferrell, Robert E" sort="Ferrell, Robert E" uniqKey="Ferrell R" first="Robert E." last="Ferrell">Robert E. Ferrell</name>
<affiliation wicri:level="2"><nlm:aff id="N0x96ce330.0x9c8f8a0">Department of Human Genetics, University of Pittsburgh, 130 DeSoto Street, Pittsburgh, PA 15261;</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Human Genetics, University of Pittsburgh, 130 DeSoto Street, Pittsburgh</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Alitalo, Kari" sort="Alitalo, Kari" uniqKey="Alitalo K" first="Kari" last="Alitalo">Kari Alitalo</name>
<affiliation wicri:level="1"><nlm:aff id="N0x96ce330.0x9c8f8a0">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;</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>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</wicri:regionArea>
<wicri:noRegion>00014 Helsinki</wicri:noRegion>
<placeName><settlement type="city">Helsinki</settlement>
<region type="région" nuts="2">Uusimaa</region>
</placeName>
<orgName type="university">Université d'Helsinki</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j">Proceedings of the National Academy of Sciences of the United States of America</title>
<idno type="ISSN">0027-8424</idno>
<idno type="eISSN">1091-6490</idno>
<imprint><date when="2001">2001</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adenoviridae (genetics)</term>
<term>Amino Acid Sequence</term>
<term>Animals</term>
<term>Dependovirus (genetics)</term>
<term>Disease Models, Animal</term>
<term>Endothelial Growth Factors (genetics)</term>
<term>Endothelial Growth Factors (metabolism)</term>
<term>Genetic Therapy</term>
<term>Humans</term>
<term>Lymphedema (therapy)</term>
<term>Male</term>
<term>Mice</term>
<term>Mice, Inbred BALB C</term>
<term>Mice, Inbred C3H</term>
<term>Molecular Sequence Data</term>
<term>Nerve Tissue Proteins (analysis)</term>
<term>Neuropilin-1</term>
<term>Receptor Protein-Tyrosine Kinases (physiology)</term>
<term>Receptors, Growth Factor (physiology)</term>
<term>Vascular Endothelial Growth Factor C</term>
<term>Vascular Endothelial Growth Factor Receptor-3</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adenoviridae (génétique)</term>
<term>Animaux</term>
<term>Dependovirus (génétique)</term>
<term>Données de séquences moléculaires</term>
<term>Facteur de croissance endothéliale vasculaire de type C</term>
<term>Facteurs de croissance endothéliale (génétique)</term>
<term>Facteurs de croissance endothéliale (métabolisme)</term>
<term>Humains</term>
<term>Lymphoedème ()</term>
<term>Modèles animaux de maladie humaine</term>
<term>Mâle</term>
<term>Neuropiline 1</term>
<term>Protéines de tissu nerveux (analyse)</term>
<term>Récepteur facteur croissance (physiologie)</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire</term>
<term>Récepteurs à activité tyrosine kinase (physiologie)</term>
<term>Souris</term>
<term>Souris de lignée BALB C</term>
<term>Souris de lignée C3H</term>
<term>Séquence d'acides aminés</term>
<term>Thérapie génétique</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="analysis" xml:lang="en"><term>Nerve Tissue Proteins</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Endothelial Growth Factors</term>
</keywords>
<keywords scheme="MESH" qualifier="analyse" xml:lang="fr"><term>Protéines de tissu nerveux</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Adenoviridae</term>
<term>Dependovirus</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Adenoviridae</term>
<term>Dependovirus</term>
<term>Facteurs de croissance endothéliale</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Endothelial Growth Factors</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Facteurs de croissance endothéliale</term>
</keywords>
<keywords scheme="MESH" qualifier="physiologie" xml:lang="fr"><term>Récepteur facteur croissance</term>
<term>Récepteurs à activité tyrosine kinase</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Receptor Protein-Tyrosine Kinases</term>
<term>Receptors, Growth Factor</term>
</keywords>
<keywords scheme="MESH" qualifier="therapy" xml:lang="en"><term>Lymphedema</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Amino Acid Sequence</term>
<term>Animals</term>
<term>Disease Models, Animal</term>
<term>Genetic Therapy</term>
<term>Humans</term>
<term>Male</term>
<term>Mice</term>
<term>Mice, Inbred BALB C</term>
<term>Mice, Inbred C3H</term>
<term>Molecular Sequence Data</term>
<term>Neuropilin-1</term>
<term>Vascular Endothelial Growth Factor C</term>
<term>Vascular Endothelial Growth Factor Receptor-3</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Animaux</term>
<term>Données de séquences moléculaires</term>
<term>Facteur de croissance endothéliale vasculaire de type C</term>
<term>Humains</term>
<term>Lymphoedème</term>
<term>Modèles animaux de maladie humaine</term>
<term>Mâle</term>
<term>Neuropiline 1</term>
<term>Récepteur-3 au facteur croissance endothéliale vasculaire</term>
<term>Souris</term>
<term>Souris de lignée BALB C</term>
<term>Souris de lignée C3H</term>
<term>Séquence d'acides aminés</term>
<term>Thérapie génétique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<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>
</TEI>
<affiliations><list><country><li>Finlande</li>
<li>France</li>
<li>Suisse</li>
<li>États-Unis</li>
</country>
<region><li>Canton de Zurich</li>
<li>Pennsylvanie</li>
<li>Uusimaa</li>
</region>
<settlement><li>Helsinki</li>
<li>Zurich</li>
</settlement>
<orgName><li>Université d'Helsinki</li>
<li>Université de Zurich</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Kauppinen, Risto" sort="Kauppinen, Risto" uniqKey="Kauppinen R" first="Risto" last="Kauppinen">Risto Kauppinen</name>
<name sortKey="Kettunen, Mikko I" sort="Kettunen, Mikko I" uniqKey="Kettunen M" first="Mikko I." last="Kettunen">Mikko I. Kettunen</name>
</noCountry>
<country name="Finlande"><noRegion><name sortKey="Karkkainen, Marika J" sort="Karkkainen, Marika J" uniqKey="Karkkainen M" first="Marika J." last="Karkkainen">Marika J. Karkkainen</name>
</noRegion>
<name sortKey="Alitalo, Kari" sort="Alitalo, Kari" uniqKey="Alitalo K" first="Kari" last="Alitalo">Kari Alitalo</name>
<name sortKey="Jussila, Lotta" sort="Jussila, Lotta" uniqKey="Jussila L" first="Lotta" last="Jussila">Lotta Jussila</name>
<name sortKey="Karila, Kaisa A" sort="Karila, Kaisa A" uniqKey="Karila K" first="Kaisa A." last="Karila">Kaisa A. Karila</name>
<name sortKey="Saaristo, Anne" sort="Saaristo, Anne" uniqKey="Saaristo A" first="Anne" last="Saaristo">Anne Saaristo</name>
<name sortKey="Yl Herttuala, Seppo" sort="Yl Herttuala, Seppo" uniqKey="Yl Herttuala S" first="Seppo" last="Yl Herttuala">Seppo Yl Herttuala</name>
</country>
<country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Lawrence, Elizabeth C" sort="Lawrence, Elizabeth C" uniqKey="Lawrence E" first="Elizabeth C." last="Lawrence">Elizabeth C. Lawrence</name>
</region>
<name sortKey="Ferrell, Robert E" sort="Ferrell, Robert E" uniqKey="Ferrell R" first="Robert E." last="Ferrell">Robert E. Ferrell</name>
<name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N." last="Finegold">David N. Finegold</name>
<name sortKey="Finegold, David N" sort="Finegold, David N" uniqKey="Finegold D" first="David N." last="Finegold">David N. Finegold</name>
</country>
<country name="Suisse"><region name="Canton de Zurich"><name sortKey="Pajusola, Katri" sort="Pajusola, Katri" uniqKey="Pajusola K" first="Katri" last="Pajusola">Katri Pajusola</name>
</region>
<name sortKey="Bueler, Hansruedi" sort="Bueler, Hansruedi" uniqKey="Bueler H" first="Hansruedi" last="Bueler">Hansruedi Bueler</name>
</country>
<country name="France"><noRegion><name sortKey="Eichmann, Anne" sort="Eichmann, Anne" uniqKey="Eichmann A" first="Anne" last="Eichmann">Anne Eichmann</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
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