Analysis of ferritin genes in Parkinson disease
Identifieur interne : 000832 ( Main/Corpus ); précédent : 000831; suivant : 000833Analysis of ferritin genes in Parkinson disease
Auteurs :Source :
- Clinical Chemical Laboratory Medicine [ 14346621 ] ; 2007-11-01.
Abstract
Background: Genes that regulate iron metabolism may be involved in increasing brain iron content in Parkinson disease (PD). The ferritin L-chain is one of these genes, but the rare insertional mutations that cause neuroferritinopathy with basal ganglia degeneration have not yet been identified in PD. Methods: We used denaturing HPLC (DHPLC) to investigate 124 PD patients and 180 controls for variations in the coding and in the 5′ untranslated regions of the H- and L-ferritin genes. Results: In the H-ferritin gene, we found one new and rather common intronic polymorphism and the K54R substitution in two controls. The L-ferritin gene showed a very common L55L polymorphism and four other types of DNA variations, three of which were in the patient cohort. A mutation of the conserved His133 to Pro was found in a PD patient and in his daughter. The patient did not show signs of neuroferritinopathy, but the mutation was associated with low L-ferritin levels and with mild chronic anemia. Conclusions: The results support the hypothesis that DNA variations in the ferritin genes are not a common cause for PD. Clin Chem Lab Med 2007;45:1450–6.
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DOI: 10.1515/CCLM.2007.307
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Analysis of ferritin genes in Parkinson disease</title></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:90F387319D9CDDBD7A9C3AE7FC5205AA8D45668F</idno><date when="2007" year="2007">2007</date><idno type="doi">10.1515/CCLM.2007.307</idno><idno type="url">https://api.istex.fr/document/90F387319D9CDDBD7A9C3AE7FC5205AA8D45668F/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">000832</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Analysis of ferritin genes in Parkinson disease</title></analytic><monogr></monogr><series><title level="j">Clinical Chemical Laboratory Medicine</title><title level="j" type="abbrev">Clinical Chemical Laboratory Medicine</title><idno type="ISSN">14346621</idno><idno type="eISSN">14374331</idno><imprint><publisher>Walter de Gruyter</publisher><date type="published" when="2007-11-01">2007-11-01</date><biblScope unit="volume">45</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1450">1450</biblScope><biblScope unit="page" to="1456">1456</biblScope></imprint><idno type="ISSN">14346621</idno></series><idno type="istex">90F387319D9CDDBD7A9C3AE7FC5205AA8D45668F</idno><idno type="DOI">10.1515/CCLM.2007.307</idno><idno type="ArticleID">cclm.2007.307</idno><idno type="Related-article-Href">cclm.2007.307.pdf</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">14346621</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background: Genes that regulate iron metabolism may be involved in increasing brain iron content in Parkinson disease (PD). The ferritin L-chain is one of these genes, but the rare insertional mutations that cause neuroferritinopathy with basal ganglia degeneration have not yet been identified in PD. Methods: We used denaturing HPLC (DHPLC) to investigate 124 PD patients and 180 controls for variations in the coding and in the 5′ untranslated regions of the H- and L-ferritin genes. Results: In the H-ferritin gene, we found one new and rather common intronic polymorphism and the K54R substitution in two controls. The L-ferritin gene showed a very common L55L polymorphism and four other types of DNA variations, three of which were in the patient cohort. A mutation of the conserved His133 to Pro was found in a PD patient and in his daughter. The patient did not show signs of neuroferritinopathy, but the mutation was associated with low L-ferritin levels and with mild chronic anemia. Conclusions: The results support the hypothesis that DNA variations in the ferritin genes are not a common cause for PD. Clin Chem Lab Med 2007;45:1450–6.</div></front></TEI><istex><corpusName>degruyter-journals</corpusName><subject><json:item><lang><json:string>eng</json:string></lang><value>Genetics and Molecular Diagnostics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>anemia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>denaturing high-performance liquid chromatography (DHPLC)</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>ferritin</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkinson disease</value></json:item></subject><language><json:string>eng</json:string></language><abstract>Background: Genes that regulate iron metabolism may be involved in increasing brain iron content in Parkinson disease (PD). The ferritin L-chain is one of these genes, but the rare insertional mutations that cause neuroferritinopathy with basal ganglia degeneration have not yet been identified in PD. Methods: We used denaturing HPLC (DHPLC) to investigate 124 PD patients and 180 controls for variations in the coding and in the 5′ untranslated regions of the H- and L-ferritin genes. Results: In the H-ferritin gene, we found one new and rather common intronic polymorphism and the K54R substitution in two controls. The L-ferritin gene showed a very common L55L polymorphism and four other types of DNA variations, three of which were in the patient cohort. A mutation of the conserved His133 to Pro was found in a PD patient and in his daughter. The patient did not show signs of neuroferritinopathy, but the mutation was associated with low L-ferritin levels and with mild chronic anemia. Conclusions: The results support the hypothesis that DNA variations in the ferritin genes are not a common cause for PD. Clin Chem Lab Med 2007;45:1450–6.</abstract><qualityIndicators><score>6.373</score><pdfVersion>1.3</pdfVersion><pdfPageSize>595 x 842 pts (A4)</pdfPageSize><refBibsNative>false</refBibsNative><keywordCount>5</keywordCount><abstractCharCount>1149</abstractCharCount><pdfWordCount>4141</pdfWordCount><pdfCharCount>26956</pdfCharCount><pdfPageCount>7</pdfPageCount><abstractWordCount>186</abstractWordCount></qualityIndicators><title>Analysis of ferritin genes in Parkinson disease</title><undefined><json:item><name>Barbara Foglieni</name><affiliations><json:string>Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy</json:string></affiliations></json:item><json:item><name>Francesca Ferrari</name><affiliations><json:string>Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy</json:string></affiliations></json:item><json:item><name>Stefano Goldwurm</name><affiliations><json:string>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy</json:string></affiliations></json:item><json:item><name>Paolo Santambrogio</name><affiliations><json:string>Unit of Proteomics of Iron Metabolism, San Raffaele Scientific Institute, Milan, Italy</json:string></affiliations></json:item><json:item><name>Emanuela Castiglioni</name><affiliations><json:string>Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy</json:string></affiliations></json:item><json:item><name>Maria Sessa</name><affiliations><json:string>Unit of Neurology, Neurophysiology and Neuro-rehabilitation, San Raffaele Scientific Institute, Milan, Italy</json:string></affiliations></json:item><json:item><name>Maria Antonietta Volontè</name><affiliations><json:string>Unit of Neurology, Neurophysiology and Neuro-rehabilitation, San Raffaele Scientific Institute, Milan, Italy</json:string></affiliations></json:item><json:item><name>Stefania Lalli</name><affiliations><json:string>Unit of Neurology, Neurophysiology and Neuro-rehabilitation, San Raffaele Scientific Institute, Milan, Italy</json:string></affiliations></json:item><json:item><name>Carlo Galli</name><affiliations><json:string>Department of Pathology, Cytology and Cytogenetics, Niguarda Ca' Granda Hospital, Milan, Italy</json:string></affiliations></json:item><json:item><name>Xin-Sheng Wang</name><affiliations><json:string>Department of Neurosurgery, Penn State University, M.S. Hershey Medical Center, Hershey, PA, USA</json:string></affiliations></json:item><json:item><name>James Connor</name><affiliations><json:string>Department of Neurosurgery, Penn State University, M.S. Hershey Medical Center, Hershey, PA, USA</json:string></affiliations></json:item><json:item><name>Francesca Sironi</name><affiliations><json:string>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy and Molecular Genetics Laboratory, Foundation “Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena”, Milan, Italy</json:string></affiliations></json:item><json:item><name>Margherita Canesi</name><affiliations><json:string>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy</json:string></affiliations></json:item><json:item><name>Giorgio Biasiotto</name><affiliations><json:string>Dipartimento Materno Infantile e Tecnologie Biomediche, University of Brescia, A.O. Spedali Civili, Brescia, Italy</json:string></affiliations></json:item><json:item><name>Gianni Pezzoli</name><affiliations><json:string>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy</json:string></affiliations></json:item><json:item><name>Sonia Levi</name><affiliations><json:string>Unit of Proteomics of Iron Metabolism, San Raffaele Scientific Institute, Milan, Italy and Università Vita-Salute San Raffaele, Milan, Italy</json:string></affiliations></json:item><json:item><name>Maurizio Ferrari</name><affiliations><json:string>Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy, Università Vita-Salute San Raffaele, Milan, Italy and Diagnostica e Ricerca San Raffaele S.p.A, Milan, Italy</json:string></affiliations></json:item><json:item><name>Paolo Arosio</name><affiliations><json:string>Dipartimento Materno Infantile e Tecnologie Biomediche, University of Brescia, A.O. Spedali Civili, Brescia, Italy</json:string></affiliations></json:item><json:item><name>Laura Cremonesi</name><affiliations><json:string>Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy and Diagnostica e Ricerca San Raffaele S.p.A, Milan, Italy</json:string></affiliations></json:item></undefined><genre><json:string>research-article</json:string></genre><host><volume>45</volume><pages><last>1456</last><first>1450</first></pages><issn><json:string>14346621</json:string></issn><issue>11</issue><genre></genre><language><json:string>unknown</json:string></language><eissn><json:string>14374331</json:string></eissn><title>Clinical Chemical Laboratory Medicine</title></host><publicationDate>2007</publicationDate><copyrightDate>2007</copyrightDate><doi><json:string>10.1515/CCLM.2007.307</json:string></doi><id>90F387319D9CDDBD7A9C3AE7FC5205AA8D45668F</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/90F387319D9CDDBD7A9C3AE7FC5205AA8D45668F/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/90F387319D9CDDBD7A9C3AE7FC5205AA8D45668F/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/90F387319D9CDDBD7A9C3AE7FC5205AA8D45668F/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Analysis of ferritin genes in Parkinson disease</title><respStmt xml:id="ISTEX-API" resp="Références bibliographiques récupérées via GROBID" name="ISTEX-API (INIST-CNRS)"></respStmt></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Walter de Gruyter</publisher><availability><p>De Gruyter</p></availability><date>2007-10-31</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Analysis of ferritin genes in Parkinson disease</title><author>Barbara</author><author>Francesca</author><author>Stefano</author><author>Paolo</author><author>Emanuela</author><author>Maria</author><author>Maria</author><author>Stefania</author><author>Carlo</author><author>Xin-Sheng</author><author>James</author><author>Francesca</author><author>Margherita</author><author>Giorgio</author><author>Gianni</author><author>Sonia</author><author>Maurizio</author><author>Paolo</author><author>Laura</author></analytic><monogr><title level="j">Clinical Chemical Laboratory Medicine</title><title level="j" type="abbrev">Clinical Chemical Laboratory Medicine</title><idno type="pISSN">14346621</idno><idno type="eISSN">14374331</idno><imprint><publisher>Walter de Gruyter</publisher><date type="published" when="2007-11-01"></date><biblScope unit="volume">45</biblScope><biblScope unit="issue">11</biblScope><biblScope unit="page" from="1450">1450</biblScope><biblScope unit="page" to="1456">1456</biblScope></imprint></monogr><idno type="istex">90F387319D9CDDBD7A9C3AE7FC5205AA8D45668F</idno><idno type="DOI">10.1515/CCLM.2007.307</idno><idno type="ArticleID">cclm.2007.307</idno><idno type="Related-article-Href">cclm.2007.307.pdf</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2007-10-31</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Background: Genes that regulate iron metabolism may be involved in increasing brain iron content in Parkinson disease (PD). The ferritin L-chain is one of these genes, but the rare insertional mutations that cause neuroferritinopathy with basal ganglia degeneration have not yet been identified in PD. Methods: We used denaturing HPLC (DHPLC) to investigate 124 PD patients and 180 controls for variations in the coding and in the 5′ untranslated regions of the H- and L-ferritin genes. Results: In the H-ferritin gene, we found one new and rather common intronic polymorphism and the K54R substitution in two controls. The L-ferritin gene showed a very common L55L polymorphism and four other types of DNA variations, three of which were in the patient cohort. A mutation of the conserved His133 to Pro was found in a PD patient and in his daughter. The patient did not show signs of neuroferritinopathy, but the mutation was associated with low L-ferritin levels and with mild chronic anemia. Conclusions: The results support the hypothesis that DNA variations in the ferritin genes are not a common cause for PD. Clin Chem Lab Med 2007;45:1450–6.</p></abstract><textClass><keywords scheme="keyword"><list><head>Keywords</head><item><term>anemia</term></item><item><term>denaturing high-performance liquid chromatography (DHPLC)</term></item><item><term>ferritin</term></item><item><term>Parkinson disease</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2007-10-31">Created</change><change when="2007-11-01">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2016-3-13">References added</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/90F387319D9CDDBD7A9C3AE7FC5205AA8D45668F/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus degruyter-journals" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="UTF-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//Atypon//DTD Atypon Systems Archival NLM DTD Suite v2.2.0 20090301//EN" URI="nlm-dtd/archivearticle.dtd" name="istex:docType"></istex:docType><istex:document><article article-type="research-article" xml:lang="EN"><front><journal-meta><journal-id journal-id-type="publisher-id">cclm</journal-id><abbrev-journal-title abbrev-type="full">Clinical Chemical Laboratory Medicine</abbrev-journal-title><issn pub-type="epub">14374331</issn><issn pub-type="ppub">14346621</issn><publisher><publisher-name>Walter de Gruyter</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">cclm.2007.307</article-id><article-id pub-id-type="doi">10.1515/CCLM.2007.307</article-id><article-categories><subj-group subj-group-type="heading"><subject>Genetics and Molecular Diagnostics</subject></subj-group></article-categories><title-group><article-title>Analysis of ferritin genes in Parkinson disease</article-title></title-group><contrib-group><contrib><name><given-names>Barbara</given-names><x> </x><surname>Foglieni</surname><x>, </x></name><xref ref-type="aff" rid="a1"><sup>1</sup></xref><aff id="a1"><sup>1</sup>Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy</aff></contrib><contrib><name><given-names>Francesca</given-names><x> </x><surname>Ferrari</surname><x>, </x></name><xref ref-type="aff" rid="a2"><sup>2</sup></xref><aff id="a2"><sup>2</sup>Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy</aff></contrib><contrib><name><given-names>Stefano</given-names><x> </x><surname>Goldwurm</surname><x>, </x></name><xref ref-type="aff" rid="a3"><sup>3</sup></xref><aff id="a3"><sup>3</sup>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy</aff></contrib><contrib><name><given-names>Paolo</given-names><x> </x><surname>Santambrogio</surname><x>, </x></name><xref ref-type="aff" rid="a4"><sup>4</sup></xref><aff id="a4"><sup>4</sup>Unit of Proteomics of Iron Metabolism, San Raffaele Scientific Institute, Milan, Italy</aff></contrib><contrib><name><given-names>Emanuela</given-names><x> </x><surname>Castiglioni</surname><x>, </x></name><xref ref-type="aff" rid="a5"><sup>5</sup></xref><aff id="a5"><sup>5</sup>Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy</aff></contrib><contrib><name><given-names>Maria</given-names><x> </x><surname>Sessa</surname><x>, </x></name><xref ref-type="aff" rid="a6"><sup>6</sup></xref><aff id="a6"><sup>6</sup>Unit of Neurology, Neurophysiology and Neuro-rehabilitation, San Raffaele Scientific Institute, Milan, Italy</aff></contrib><contrib><name><given-names>Maria</given-names><x> </x><surname>Antonietta Volontè</surname><x>, </x></name><xref ref-type="aff" rid="a7"><sup>7</sup></xref><aff id="a7"><sup>7</sup>Unit of Neurology, Neurophysiology and Neuro-rehabilitation, San Raffaele Scientific Institute, Milan, Italy</aff></contrib><contrib><name><given-names>Stefania</given-names><x> </x><surname>Lalli</surname><x>, </x></name><xref ref-type="aff" rid="a8"><sup>8</sup></xref><aff id="a8"><sup>8</sup>Unit of Neurology, Neurophysiology and Neuro-rehabilitation, San Raffaele Scientific Institute, Milan, Italy</aff></contrib><contrib><name><given-names>Carlo</given-names><x> </x><surname>Galli</surname><x>, </x></name><xref ref-type="aff" rid="a9"><sup>9</sup></xref><aff id="a9"><sup>9</sup>Department of Pathology, Cytology and Cytogenetics, Niguarda Ca' Granda Hospital, Milan, Italy</aff></contrib><contrib><name><given-names>Xin-Sheng</given-names><x> </x><surname>Wang</surname><x>, </x></name><xref ref-type="aff" rid="a10"><sup>10</sup></xref><aff id="a10"><sup>10</sup>Department of Neurosurgery, Penn State University, M.S. Hershey Medical Center, Hershey, PA, USA</aff></contrib><contrib><name><given-names>James</given-names><x> </x><surname>Connor</surname><x>, </x></name><xref ref-type="aff" rid="a11"><sup>11</sup></xref><aff id="a11"><sup>11</sup>Department of Neurosurgery, Penn State University, M.S. Hershey Medical Center, Hershey, PA, USA</aff></contrib><contrib><name><given-names>Francesca</given-names><x> </x><surname>Sironi</surname><x>, </x></name><xref ref-type="aff" rid="a12"><sup>12</sup></xref><aff id="a12"><sup>12</sup>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy and Molecular Genetics Laboratory, Foundation “Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena”, Milan, Italy</aff></contrib><contrib><name><given-names>Margherita</given-names><x> </x><surname>Canesi</surname><x>, </x></name><xref ref-type="aff" rid="a13"><sup>13</sup></xref><aff id="a13"><sup>13</sup>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy</aff></contrib><contrib><name><given-names>Giorgio</given-names><x> </x><surname>Biasiotto</surname><x>, </x></name><xref ref-type="aff" rid="a14"><sup>14</sup></xref><aff id="a14"><sup>14</sup>Dipartimento Materno Infantile e Tecnologie Biomediche, University of Brescia, A.O. Spedali Civili, Brescia, Italy</aff></contrib><contrib><name><given-names>Gianni</given-names><x> </x><surname>Pezzoli</surname><x>, </x></name><xref ref-type="aff" rid="a15"><sup>15</sup></xref><aff id="a15"><sup>15</sup>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy</aff></contrib><contrib><name><given-names>Sonia</given-names><x> </x><surname>Levi</surname><x>, </x></name><xref ref-type="aff" rid="a16"><sup>16</sup></xref><aff id="a16"><sup>16</sup>Unit of Proteomics of Iron Metabolism, San Raffaele Scientific Institute, Milan, Italy and Università Vita-Salute San Raffaele, Milan, Italy</aff></contrib><contrib><name><given-names>Maurizio</given-names><x> </x><surname>Ferrari</surname><x>, </x></name><xref ref-type="aff" rid="a17"><sup>17</sup></xref><aff id="a17"><sup>17</sup>Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy, Università Vita-Salute San Raffaele, Milan, Italy and Diagnostica e Ricerca San Raffaele S.p.A, Milan, Italy</aff></contrib><contrib><name><given-names>Paolo</given-names><x> </x><surname>Arosio</surname><x>, </x></name><xref ref-type="aff" rid="a18"><sup>18</sup></xref><aff id="a18"><sup>18</sup>Dipartimento Materno Infantile e Tecnologie Biomediche, University of Brescia, A.O. Spedali Civili, Brescia, Italy</aff></contrib><contrib><name><given-names>Laura</given-names><x> </x><surname>Cremonesi</surname><x>, </x></name><xref ref-type="aff" rid="a19"><sup>19</sup></xref><aff id="a19"><sup>19</sup>Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy and Diagnostica e Ricerca San Raffaele S.p.A, Milan, Italy</aff></contrib></contrib-group><author-notes><corresp>Corresponding author: Prof. Paolo Arosio, PhD, Dipartimento Materno Infantile e Tecnologie Biomediche, Università di Brescia, Viale Europa 11, 25123 Brescia, Italy Phone: +39-030-394-386, Fax: +39-030-307-251, <email xlink:href="mailto:arosio@med.unibs.it">arosio@med.unibs.it</email></corresp></author-notes><pub-date pub-type="ppub"><day>01</day><month>11</month><year>2007</year><string-date>November 2007</string-date></pub-date><pub-date pub-type="epub"><day>31</day><month>10</month><year>2007</year></pub-date><volume>45</volume><issue>11</issue><fpage>1450</fpage><lpage>1456</lpage><history><date date-type="received"><day>17</day><month>5</month><year>2007</year></date><date date-type="accepted"><day>30</day><month>6</month><year>2007</year></date></history><copyright-statement>©2007 by Walter de Gruyter Berlin New York</copyright-statement><copyright-year>2007</copyright-year><related-article related-article-type="pdf" xlink:href="cclm.2007.307.pdf"></related-article><abstract><title>Abstract</title><p><bold>Background</bold>: Genes that regulate iron metabolism may be involved in increasing brain iron content in Parkinson disease (PD). The ferritin L-chain is one of these genes, but the rare insertional mutations that cause neuroferritinopathy with basal ganglia degeneration have not yet been identified in PD.</p><p><bold>Methods</bold>: We used denaturing HPLC (DHPLC) to investigate 124 PD patients and 180 controls for variations in the coding and in the 5′ untranslated regions of the H- and L-ferritin genes.</p><p><bold>Results</bold>: In the H-ferritin gene, we found one new and rather common intronic polymorphism and the K54R substitution in two controls. The L-ferritin gene showed a very common L55L polymorphism and four other types of DNA variations, three of which were in the patient cohort. A mutation of the conserved His133 to Pro was found in a PD patient and in his daughter. The patient did not show signs of neuroferritinopathy, but the mutation was associated with low L-ferritin levels and with mild chronic anemia.</p><p><bold>Conclusions</bold>: The results support the hypothesis that DNA variations in the ferritin genes are not a common cause for PD.</p><p>Clin Chem Lab Med 2007;45:1450–6.</p></abstract><kwd-group><title>Keywords</title><kwd>anemia</kwd><x>, </x><kwd>denaturing high-performance liquid chromatography (DHPLC)</kwd><x>, </x><kwd>ferritin</kwd><x>, </x><kwd>Parkinson disease</kwd></kwd-group><counts><fig-count count="2"></fig-count><table-count count="3"></table-count><ref-count count="32"></ref-count></counts></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Analysis of ferritin genes in Parkinson disease</title></titleInfo><titleInfo type="alternative" lang="en" contentType="CDATA"><title>Analysis of ferritin genes in Parkinson disease</title></titleInfo><name><namePart type="given">Barbara</namePart><namePart type="family">Foglieni</namePart><affiliation>Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy</affiliation></name><name><namePart type="given">Francesca</namePart><namePart type="family">Ferrari</namePart><affiliation>Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy</affiliation></name><name><namePart type="given">Stefano</namePart><namePart type="family">Goldwurm</namePart><affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy</affiliation></name><name><namePart type="given">Paolo</namePart><namePart type="family">Santambrogio</namePart><affiliation>Unit of Proteomics of Iron Metabolism, San Raffaele Scientific Institute, Milan, Italy</affiliation></name><name><namePart type="given">Emanuela</namePart><namePart type="family">Castiglioni</namePart><affiliation>Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy</affiliation></name><name><namePart type="given">Maria</namePart><namePart type="family">Sessa</namePart><affiliation>Unit of Neurology, Neurophysiology and Neuro-rehabilitation, San Raffaele Scientific Institute, Milan, Italy</affiliation></name><name><namePart type="given">Maria</namePart><namePart type="family">Antonietta Volontè</namePart><affiliation>Unit of Neurology, Neurophysiology and Neuro-rehabilitation, San Raffaele Scientific Institute, Milan, Italy</affiliation></name><name><namePart type="given">Stefania</namePart><namePart type="family">Lalli</namePart><affiliation>Unit of Neurology, Neurophysiology and Neuro-rehabilitation, San Raffaele Scientific Institute, Milan, Italy</affiliation></name><name><namePart type="given">Carlo</namePart><namePart type="family">Galli</namePart><affiliation>Department of Pathology, Cytology and Cytogenetics, Niguarda Ca' Granda Hospital, Milan, Italy</affiliation></name><name><namePart type="given">Xin-Sheng</namePart><namePart type="family">Wang</namePart><affiliation>Department of Neurosurgery, Penn State University, M.S. Hershey Medical Center, Hershey, PA, USA</affiliation></name><name><namePart type="given">James</namePart><namePart type="family">Connor</namePart><affiliation>Department of Neurosurgery, Penn State University, M.S. Hershey Medical Center, Hershey, PA, USA</affiliation></name><name><namePart type="given">Francesca</namePart><namePart type="family">Sironi</namePart><affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy and Molecular Genetics Laboratory, Foundation “Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena”, Milan, Italy</affiliation></name><name><namePart type="given">Margherita</namePart><namePart type="family">Canesi</namePart><affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy</affiliation></name><name><namePart type="given">Giorgio</namePart><namePart type="family">Biasiotto</namePart><affiliation>Dipartimento Materno Infantile e Tecnologie Biomediche, University of Brescia, A.O. Spedali Civili, Brescia, Italy</affiliation></name><name><namePart type="given">Gianni</namePart><namePart type="family">Pezzoli</namePart><affiliation>Parkinson Institute, Istituti Clinici di Perfezionamento, Milan, Italy</affiliation></name><name><namePart type="given">Sonia</namePart><namePart type="family">Levi</namePart><affiliation>Unit of Proteomics of Iron Metabolism, San Raffaele Scientific Institute, Milan, Italy and Università Vita-Salute San Raffaele, Milan, Italy</affiliation></name><name><namePart type="given">Maurizio</namePart><namePart type="family">Ferrari</namePart><affiliation>Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy, Università Vita-Salute San Raffaele, Milan, Italy and Diagnostica e Ricerca San Raffaele S.p.A, Milan, Italy</affiliation></name><name><namePart type="given">Paolo</namePart><namePart type="family">Arosio</namePart><affiliation>Dipartimento Materno Infantile e Tecnologie Biomediche, University of Brescia, A.O. Spedali Civili, Brescia, Italy</affiliation></name><name><namePart type="given">Laura</namePart><namePart type="family">Cremonesi</namePart><affiliation>Unit of Genomics for Diagnosis of Human Pathologies, San Raffaele Scientific Institute, Milan, Italy and Diagnostica e Ricerca San Raffaele S.p.A, Milan, Italy</affiliation></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="research-article"></genre><originInfo><publisher>Walter de Gruyter</publisher><dateIssued encoding="w3cdtf">2007-11-01</dateIssued><dateCreated encoding="w3cdtf">2007-10-31</dateCreated><copyrightDate encoding="w3cdtf">2007</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">2</extent><extent unit="tables">3</extent><extent unit="references">32</extent></physicalDescription><abstract lang="en">Background: Genes that regulate iron metabolism may be involved in increasing brain iron content in Parkinson disease (PD). The ferritin L-chain is one of these genes, but the rare insertional mutations that cause neuroferritinopathy with basal ganglia degeneration have not yet been identified in PD. Methods: We used denaturing HPLC (DHPLC) to investigate 124 PD patients and 180 controls for variations in the coding and in the 5′ untranslated regions of the H- and L-ferritin genes. Results: In the H-ferritin gene, we found one new and rather common intronic polymorphism and the K54R substitution in two controls. The L-ferritin gene showed a very common L55L polymorphism and four other types of DNA variations, three of which were in the patient cohort. A mutation of the conserved His133 to Pro was found in a PD patient and in his daughter. The patient did not show signs of neuroferritinopathy, but the mutation was associated with low L-ferritin levels and with mild chronic anemia. Conclusions: The results support the hypothesis that DNA variations in the ferritin genes are not a common cause for PD. Clin Chem Lab Med 2007;45:1450–6.</abstract><subject><genre>Keywords</genre><topic>anemia</topic><topic>denaturing high-performance liquid chromatography (DHPLC)</topic><topic>ferritin</topic><topic>Parkinson disease</topic></subject><relatedItem type="host"><titleInfo><title>Clinical Chemical Laboratory Medicine</title></titleInfo><titleInfo type="abbreviated"><title>Clinical Chemical Laboratory Medicine</title></titleInfo><genre type="Journal">journal</genre><identifier type="ISSN">14346621</identifier><identifier type="eISSN">14374331</identifier><identifier type="PublisherID">cclm</identifier><part><date>2007</date><detail type="volume"><caption>vol.</caption><number>45</number></detail><detail type="issue"><caption>no.</caption><number>11</number></detail><extent unit="pages"><start>1450</start><end>1456</end></extent></part></relatedItem><relatedItem type="reviewOf"><genre>pdf</genre><identifier type="pdf">cclm.2007.307.pdf</identifier></relatedItem><identifier type="istex">90F387319D9CDDBD7A9C3AE7FC5205AA8D45668F</identifier><identifier type="DOI">10.1515/CCLM.2007.307</identifier><identifier type="ArticleID">cclm.2007.307</identifier><identifier type="Related-article-Href">cclm.2007.307.pdf</identifier><accessCondition type="use and reproduction" contentType="copyright">©2007 by Walter de Gruyter Berlin New York</accessCondition><recordInfo><recordContentSource>De Gruyter</recordContentSource></recordInfo></mods></metadata><author></author><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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