Analysis of ferritin genes in Parkinson disease
Identifieur interne : 001118 ( Main/Exploration ); précédent : 001117; suivant : 001119Analysis 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.
Url:
DOI: 10.1515/CCLM.2007.307
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
<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><idno type="wicri:Area/Main/Curation">000727</idno><idno type="wicri:Area/Main/Exploration">001118</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><affiliations><list></list><tree></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001118 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001118 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:90F387319D9CDDBD7A9C3AE7FC5205AA8D45668F
|texte= Analysis of ferritin genes in Parkinson disease
}}
| This area was generated with Dilib version V0.6.23. |  |