Overexpression of the antiapoptotic gene Bfl-1 in B cells from patients with familial systemic lupus erythematosus
Identifieur interne : 000320 ( France/Analysis ); précédent : 000319; suivant : 000321Overexpression of the antiapoptotic gene Bfl-1 in B cells from patients with familial systemic lupus erythematosus
Auteurs : J-M Andre [France] ; R. Cimaz [France] ; B. Ranchin [France] ; C. Galambrun ; Y. Bertrand [France] ; R. Bouvier [France] ; F. Rieux-Laucat [France] ; M-C Trescol-Biemont [France] ; P. Cochat [France] ; N. Bonnefoy-Berard [France]Source :
- Lupus [ 0961-2033 ] ; 2007-02.
English descriptors
- Teeft :
- Antiapoptotic gene, Antinuclear antibodies, Apoptosis, Autoimmune, Autoimmune lymphoproliferative syndrome, Autoimmune manifestations, Biological characteristics, Cell death, Consanguineous family, Disease onset, Erythematosus, Erythrocyte sedimentation rate, Exon, Family genes, Gene, Healthy donors, Hospices civils, Lupus, Lupus andre, Lupus overexpression, Lymphocyte, Lymphoproliferative, Lyon, Mrna expression, Mutation, Mycophenolate mofetil, Normal response, Overexpression, Pbmc, Plasmatic levels, Primary mediastinal, Renal biopsy, Rnase protection assay, Several studies, Severe lymphoproliferative features, Severe nephrotic syndrome, Syndrome, Systemic lupus erythematosus, Target gene signatures, Trizol reagent.
Abstract
Genetic determinants taking part in the development of systemic lupus erythematosus (SLE) are complex and not fully characterized. Dysregulated expression of genes involved in the control of apoptosis has been previously suggested. We report here a consanguineous family with SLE manifestations in three siblings associated in one of them with severe lymphoproliferative features. Laboratory studies showed no defect in CD95-mediated cell death. Screening expression of Bcl-2 family genes that regulate mitochondrial apoptosis pathway showed an overexpression of the antiapoptotic Bfl-1 gene. Real time RT-PCR analysis indicated that overexpression of Bfl-1 was restricted to B-cells, with normal expression in T-cells. Those results suggest that overexpression of Bfl-1 could result in impaired B-lymphocyte homeostasis and inappropriate immune response leading to autoimmune manifestations.
Url:
DOI: 10.1177/0961203306075382
Affiliations:
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Bonnefoy-Berard</name><affiliation wicri:level="3"><country xml:lang="fr" wicri:curation="lc">France</country><wicri:regionArea>Inserm, U503, Lyon, France; Université de Lyon, Lyon, France; Université Lyon 1, Lyon, France; IFR 128, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation><affiliation wicri:level="1"><country wicri:rule="url">France</country></affiliation></author></analytic><monogr></monogr><series><title level="j">Lupus</title><idno type="ISSN">0961-2033</idno><idno type="eISSN">1477-0962</idno><imprint><publisher>Sage Publications</publisher><pubPlace>Sage CA: Thousand Oaks, CA</pubPlace><date type="published" when="2007-02">2007-02</date><biblScope unit="volume">16</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="95">95</biblScope><biblScope unit="page" to="100">100</biblScope></imprint><idno type="ISSN">0961-2033</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0961-2033</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Antiapoptotic gene</term><term>Antinuclear antibodies</term><term>Apoptosis</term><term>Autoimmune</term><term>Autoimmune lymphoproliferative syndrome</term><term>Autoimmune manifestations</term><term>Biological characteristics</term><term>Cell death</term><term>Consanguineous family</term><term>Disease onset</term><term>Erythematosus</term><term>Erythrocyte sedimentation rate</term><term>Exon</term><term>Family genes</term><term>Gene</term><term>Healthy donors</term><term>Hospices civils</term><term>Lupus</term><term>Lupus andre</term><term>Lupus overexpression</term><term>Lymphocyte</term><term>Lymphoproliferative</term><term>Lyon</term><term>Mrna expression</term><term>Mutation</term><term>Mycophenolate mofetil</term><term>Normal response</term><term>Overexpression</term><term>Pbmc</term><term>Plasmatic levels</term><term>Primary mediastinal</term><term>Renal biopsy</term><term>Rnase protection assay</term><term>Several studies</term><term>Severe lymphoproliferative features</term><term>Severe nephrotic syndrome</term><term>Syndrome</term><term>Systemic lupus erythematosus</term><term>Target gene signatures</term><term>Trizol reagent</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Genetic determinants taking part in the development of systemic lupus erythematosus (SLE) are complex and not fully characterized. Dysregulated expression of genes involved in the control of apoptosis has been previously suggested. We report here a consanguineous family with SLE manifestations in three siblings associated in one of them with severe lymphoproliferative features. Laboratory studies showed no defect in CD95-mediated cell death. Screening expression of Bcl-2 family genes that regulate mitochondrial apoptosis pathway showed an overexpression of the antiapoptotic Bfl-1 gene. Real time RT-PCR analysis indicated that overexpression of Bfl-1 was restricted to B-cells, with normal expression in T-cells. Those results suggest that overexpression of Bfl-1 could result in impaired B-lymphocyte homeostasis and inappropriate immune response leading to autoimmune manifestations.</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Auvergne-Rhône-Alpes</li><li>Rhône-Alpes</li><li>Île-de-France</li></region><settlement><li>Lyon</li><li>Paris</li></settlement></list><tree><noCountry><name sortKey="Galambrun, C" sort="Galambrun, C" uniqKey="Galambrun C" first="C" last="Galambrun">C. Galambrun</name></noCountry><country name="France"><region name="Auvergne-Rhône-Alpes"><name sortKey="Andre, J M" sort="Andre, J M" uniqKey="Andre J" first="J-M" last="Andre">J-M Andre</name></region><name sortKey="Bertrand, Y" sort="Bertrand, Y" uniqKey="Bertrand Y" first="Y" last="Bertrand">Y. Bertrand</name><name sortKey="Bonnefoy Berard, N" sort="Bonnefoy Berard, N" uniqKey="Bonnefoy Berard N" first="N" last="Bonnefoy-Berard">N. Bonnefoy-Berard</name><name sortKey="Bonnefoy Berard, N" sort="Bonnefoy Berard, N" uniqKey="Bonnefoy Berard N" first="N" last="Bonnefoy-Berard">N. Bonnefoy-Berard</name><name sortKey="Bouvier, R" sort="Bouvier, R" uniqKey="Bouvier R" first="R" last="Bouvier">R. Bouvier</name><name sortKey="Cimaz, R" sort="Cimaz, R" uniqKey="Cimaz R" first="R" last="Cimaz">R. Cimaz</name><name sortKey="Cochat, P" sort="Cochat, P" uniqKey="Cochat P" first="P" last="Cochat">P. Cochat</name><name sortKey="Ranchin, B" sort="Ranchin, B" uniqKey="Ranchin B" first="B" last="Ranchin">B. Ranchin</name><name sortKey="Rieux Laucat, F" sort="Rieux Laucat, F" uniqKey="Rieux Laucat F" first="F" last="Rieux-Laucat">F. Rieux-Laucat</name><name sortKey="Trescol Biemont, M C" sort="Trescol Biemont, M C" uniqKey="Trescol Biemont M" first="M-C" last="Trescol-Biemont">M-C Trescol-Biemont</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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