Recessive Amyotrophic Lateral Sclerosis Families with the D90A SOD1 Mutation Share a Common Founder: Evidence for a Linked Protective Factor
Identifieur interne : 00C886 ( Main/Exploration ); précédent : 00C885; suivant : 00C887Recessive Amyotrophic Lateral Sclerosis Families with the D90A SOD1 Mutation Share a Common Founder: Evidence for a Linked Protective Factor
Auteurs : Ammar Al-Chalabi [Royaume-Uni] ; Peter M. Andersen [Suède] ; Barry Chioza [Royaume-Uni] ; Christopher Shaw [Royaume-Uni] ; Pak C. Sham [Royaume-Uni] ; Wim Robberecht [Belgique] ; Gert Matthijs [Belgique] ; William Camu [France] ; Stefan L. Marklund [Suède] ; Lars Forsgren [Suède] ; Guy Rouleau [Canada] ; Nigel G. Laing [Australie] ; P. V. Hurse [Australie] ; Teepu Siddique [États-Unis] ; P. Nigel Leigh [Royaume-Uni] ; John F. Powell [Royaume-Uni]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 1998-12.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
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Abstract
Amyotrophic lateral sclerosis (ALS) is a progressive motor neurodegeneration resulting in paralysis and death from respiratory failure within 3–5 years. About 20% of familial cases are associated with mutations in the gene for copper/zinc superoxide dismutase (SOD1), which catalyses the dismutation of the superoxide radical to hydrogen peroxide and oxygen. Experimental evidence suggests mutations act by a toxic gain of function but the mechanism is unknown. There are >60 known SOD1 mutations associated with ALS and all are dominant except for one in exon 4, a D90A substitution which is recessive. D90A pedigrees with dominant inheritance have now been reported and this apparent contradiction needs to be explained. We performed a worldwide haplotype study on 28 D90A pedigrees using six highly polymorphic microsatellite markers. We now show that all 20 recessive families share the same founder (α = 0.999), regardless of geographical location, whereas several founders exist for the eight dominant families (α = 0.385). This finding confirms that D90A can act in a dominant fashion in keeping with all other SOD1 mutations, but that on one occasion, a new instance of this mutation has been recessive. We propose a tightly linked protective factor which modifies the toxic effect of mutant SOD1 in recessive families.
Url:
DOI: 10.1093/hmg/7.13.2045
Affiliations:
- Australie, Belgique, Canada, France, Royaume-Uni, Suède, États-Unis
- Illinois, Province du Brabant flamand, Québec
- Louvain, Montréal
- Université McGill
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Le document en format XML
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Andersen</name><affiliation wicri:level="1"><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Neurology, Umeå University, S-901 85 Umeå</wicri:regionArea><wicri:noRegion>S-901 85 Umeå</wicri:noRegion></affiliation></author><author><name sortKey="Chioza, Barry" sort="Chioza, Barry" uniqKey="Chioza B" first="Barry" last="Chioza">Barry Chioza</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park, Denmark Hill, London SE5 8AF</wicri:regionArea><wicri:noRegion>London SE5 8AF</wicri:noRegion></affiliation></author><author><name sortKey="Shaw, Christopher" sort="Shaw, Christopher" uniqKey="Shaw C" first="Christopher" last="Shaw">Christopher Shaw</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park, Denmark Hill, London SE5 8AF</wicri:regionArea><wicri:noRegion>London SE5 8AF</wicri:noRegion></affiliation></author><author><name sortKey="Sham, Pak C" sort="Sham, Pak C" uniqKey="Sham P" first="Pak C." last="Sham">Pak C. Sham</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park, Denmark Hill, London SE5 8AF</wicri:regionArea><wicri:noRegion>London SE5 8AF</wicri:noRegion></affiliation></author><author><name sortKey="Robberecht, Wim" sort="Robberecht, Wim" uniqKey="Robberecht W" first="Wim" last="Robberecht">Wim Robberecht</name><affiliation wicri:level="3"><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Neurology, University Hospital Gasthuisberg, 3000 Leuven</wicri:regionArea><placeName><region type="province" nuts="2">Province du Brabant flamand</region><settlement type="city">Louvain</settlement></placeName></affiliation></author><author><name sortKey="Matthijs, Gert" sort="Matthijs, Gert" uniqKey="Matthijs G" first="Gert" last="Matthijs">Gert Matthijs</name><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Center of Human Genetics, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Camu, William" sort="Camu, William" uniqKey="Camu W" first="William" last="Camu">William Camu</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Neurologie B, Hôpital Gui de Chauliac, 34295 Montpellier, Cedex 5</wicri:regionArea><wicri:noRegion>Cedex 5</wicri:noRegion><wicri:noRegion>Cedex 5</wicri:noRegion></affiliation></author><author><name sortKey="Marklund, Stefan L" sort="Marklund, Stefan L" uniqKey="Marklund S" first="Stefan L." last="Marklund">Stefan L. Marklund</name><affiliation wicri:level="1"><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Clinical Chemistry, Umeå University, S-901 85 Umeå</wicri:regionArea><wicri:noRegion>S-901 85 Umeå</wicri:noRegion></affiliation></author><author><name sortKey="Forsgren, Lars" sort="Forsgren, Lars" uniqKey="Forsgren L" first="Lars" last="Forsgren">Lars Forsgren</name><affiliation wicri:level="1"><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Neurology, Umeå University, S-901 85 Umeå</wicri:regionArea><wicri:noRegion>S-901 85 Umeå</wicri:noRegion></affiliation></author><author><name sortKey="Rouleau, Guy" sort="Rouleau, Guy" uniqKey="Rouleau G" first="Guy" last="Rouleau">Guy Rouleau</name><affiliation wicri:level="4"><country xml:lang="fr">Canada</country><wicri:regionArea>Centre for Research in Neuroscience, McGill University, Montreal</wicri:regionArea><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region><settlement type="city">Montréal</settlement></placeName><orgName type="university">Université McGill</orgName></affiliation></author><author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Australian Neuromuscular Research Institute, Department of Pathology, University of Western Australia, Nedlands, WA 6001</wicri:regionArea><wicri:noRegion>WA 6001</wicri:noRegion></affiliation></author><author><name sortKey="Hurse, P V" sort="Hurse, P V" uniqKey="Hurse P" first="P. V." last="Hurse">P. V. Hurse</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Australian Neuromuscular Research Institute, Department of Pathology, University of Western Australia, Nedlands, WA 6001</wicri:regionArea><wicri:noRegion>WA 6001</wicri:noRegion></affiliation></author><author><name sortKey="Siddique, Teepu" sort="Siddique, Teepu" uniqKey="Siddique T" first="Teepu" last="Siddique">Teepu Siddique</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Northwestern University, Evanston, IL</wicri:regionArea><placeName><region type="state">Illinois</region></placeName></affiliation></author><author><name sortKey="Nigel Leigh, P" sort="Nigel Leigh, P" uniqKey="Nigel Leigh P" first="P." last="Nigel Leigh">P. Nigel Leigh</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park, Denmark Hill, London SE5 8AF</wicri:regionArea><wicri:noRegion>London SE5 8AF</wicri:noRegion></affiliation></author><author><name sortKey="Powell, John F" sort="Powell, John F" uniqKey="Powell J" first="John F." last="Powell">John F. Powell</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Departments of Neuroscience and Clinical Neurosciences, Institute of Psychiatry and King's College School of Medicine and Dentistry, De Crespigny Park, Denmark Hill, London SE5 8AF</wicri:regionArea><wicri:noRegion>London SE5 8AF</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Molecular Genetics</title><title level="j" type="abbrev">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="1998-12">1998-12</date><biblScope unit="volume">7</biblScope><biblScope unit="issue">13</biblScope><biblScope unit="page" from="2045">2045</biblScope><biblScope unit="page" to="2050">2050</biblScope></imprint><idno type="ISSN">0964-6906</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0964-6906</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amyotrophic lateral sclerosis</term><term>Chromosome G21</term><term>Family study</term><term>Founder effect</term><term>Gene</term><term>Genetic disease</term><term>Genetic mapping</term><term>Haplotype</term><term>Human</term><term>Linkage</term><term>Mutation</term><term>Superoxide dismutase</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Association génétique</term><term>Carte génétique</term><term>Chromosome G21</term><term>Effet fondateur</term><term>Etude familiale</term><term>Gène</term><term>Haplotype</term><term>Homme</term><term>Liaison génétique</term><term>Maladie héréditaire</term><term>Mutation</term><term>Sclérose latérale amyotrophique</term><term>Superoxide dismutase</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract">Amyotrophic lateral sclerosis (ALS) is a progressive motor neurodegeneration resulting in paralysis and death from respiratory failure within 3–5 years. About 20% of familial cases are associated with mutations in the gene for copper/zinc superoxide dismutase (SOD1), which catalyses the dismutation of the superoxide radical to hydrogen peroxide and oxygen. Experimental evidence suggests mutations act by a toxic gain of function but the mechanism is unknown. There are >60 known SOD1 mutations associated with ALS and all are dominant except for one in exon 4, a D90A substitution which is recessive. D90A pedigrees with dominant inheritance have now been reported and this apparent contradiction needs to be explained. We performed a worldwide haplotype study on 28 D90A pedigrees using six highly polymorphic microsatellite markers. We now show that all 20 recessive families share the same founder (α = 0.999), regardless of geographical location, whereas several founders exist for the eight dominant families (α = 0.385). This finding confirms that D90A can act in a dominant fashion in keeping with all other SOD1 mutations, but that on one occasion, a new instance of this mutation has been recessive. We propose a tightly linked protective factor which modifies the toxic effect of mutant SOD1 in recessive families.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Belgique</li><li>Canada</li><li>France</li><li>Royaume-Uni</li><li>Suède</li><li>États-Unis</li></country><region><li>Illinois</li><li>Province du Brabant flamand</li><li>Québec</li></region><settlement><li>Louvain</li><li>Montréal</li></settlement><orgName><li>Université McGill</li></orgName></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Al Chalabi, Ammar" sort="Al Chalabi, Ammar" uniqKey="Al Chalabi A" first="Ammar" last="Al-Chalabi">Ammar Al-Chalabi</name></noRegion><name sortKey="Al Chalabi, Ammar" sort="Al Chalabi, Ammar" uniqKey="Al Chalabi A" first="Ammar" last="Al-Chalabi">Ammar Al-Chalabi</name><name sortKey="Al Chalabi, Ammar" sort="Al Chalabi, Ammar" uniqKey="Al Chalabi A" first="Ammar" last="Al-Chalabi">Ammar Al-Chalabi</name><name sortKey="Chioza, Barry" sort="Chioza, Barry" uniqKey="Chioza B" first="Barry" last="Chioza">Barry Chioza</name><name sortKey="Nigel Leigh, P" sort="Nigel Leigh, P" uniqKey="Nigel Leigh P" first="P." last="Nigel Leigh">P. Nigel Leigh</name><name sortKey="Powell, John F" sort="Powell, John F" uniqKey="Powell J" first="John F." last="Powell">John F. Powell</name><name sortKey="Sham, Pak C" sort="Sham, Pak C" uniqKey="Sham P" first="Pak C." last="Sham">Pak C. Sham</name><name sortKey="Shaw, Christopher" sort="Shaw, Christopher" uniqKey="Shaw C" first="Christopher" last="Shaw">Christopher Shaw</name></country><country name="Suède"><noRegion><name sortKey="Andersen, Peter M" sort="Andersen, Peter M" uniqKey="Andersen P" first="Peter M." last="Andersen">Peter M. Andersen</name></noRegion><name sortKey="Forsgren, Lars" sort="Forsgren, Lars" uniqKey="Forsgren L" first="Lars" last="Forsgren">Lars Forsgren</name><name sortKey="Marklund, Stefan L" sort="Marklund, Stefan L" uniqKey="Marklund S" first="Stefan L." last="Marklund">Stefan L. Marklund</name></country><country name="Belgique"><region name="Province du Brabant flamand"><name sortKey="Robberecht, Wim" sort="Robberecht, Wim" uniqKey="Robberecht W" first="Wim" last="Robberecht">Wim Robberecht</name></region><name sortKey="Matthijs, Gert" sort="Matthijs, Gert" uniqKey="Matthijs G" first="Gert" last="Matthijs">Gert Matthijs</name></country><country name="France"><noRegion><name sortKey="Camu, William" sort="Camu, William" uniqKey="Camu W" first="William" last="Camu">William Camu</name></noRegion></country><country name="Canada"><region name="Québec"><name sortKey="Rouleau, Guy" sort="Rouleau, Guy" uniqKey="Rouleau G" first="Guy" last="Rouleau">Guy Rouleau</name></region></country><country name="Australie"><noRegion><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name></noRegion><name sortKey="Hurse, P V" sort="Hurse, P V" uniqKey="Hurse P" first="P. V." last="Hurse">P. V. Hurse</name></country><country name="États-Unis"><region name="Illinois"><name sortKey="Siddique, Teepu" sort="Siddique, Teepu" uniqKey="Siddique T" first="Teepu" last="Siddique">Teepu Siddique</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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