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Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria.

Identifieur interne : 000356 ( Main/Exploration ); précédent : 000355; suivant : 000357

Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria.

Auteurs : Charlotte Veyrat-Durebex [France] ; Christelle Debeissat [France] ; Hélène Blasco [France] ; Franck Patin [France] ; Hélène Henique [France] ; Patrick Emond [France] ; Catherine Antar [France] ; Valérie Gissot [France] ; Olivier Herault [France] ; François Maillot [France]

Source :

RBID : pubmed:28293905

Abstract

BACKGROUND

Several studies have highlighted disturbance of redox homeostasis in patients with phenylketonuria (PKU) which may be associated with neurological disorders observed in patients, especially during adulthood when phenylalanine restrictive diets are not maintained. The aim of this study was to assess the antioxidant profile in a cohort of PKU patients in comparison to the controls and to evaluate its relation to biochemical parameters especially phenylalaninemia.

METHODS

We measured RNA expression of 22 antioxidant genes and reactive oxygen species (ROS) levels in white blood cells of 10 PKU patients and 10 age- and gender-matched controls. We also assessed plasma amino acids, vitamins, oligo-elements, and urinary organic acids concentrations. Then we evaluated the relationship between redox status and biochemical parameters.

RESULTS

In addition to expected biochemical disturbances, we highlighted a significant global decrease of antioxidant genes expression in PKU patients in comparison to the controls. This global decrease of antioxidant genes expression, including various isoforms of peroxiredoxins, glutaredoxins, glutathione peroxidases, and superoxide dismutases, was significantly correlated to hyperphenylalaninemia.

CONCLUSION

This study is the first to evaluate the expression of 22 antioxidant genes in white blood cells regarding biochemical parameters in PKU. These findings highlight the association of hyperphenylalaninemia with antioxidant genes expression. New experiments to specify the role of oxidative stress in PKU pathogenesis may be useful in suggesting new recommendations in PKU management and new therapeutic trials based on antioxidant defenses.


DOI: 10.1007/8904_2017_16
PubMed: 28293905
PubMed Central: PMC5740050


Affiliations:


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<name sortKey="Maillot, Francois" sort="Maillot, Francois" uniqKey="Maillot F" first="François" last="Maillot">François Maillot</name>
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<region type="region">Centre-Val de Loire</region>
<region type="old region">Région Centre</region>
<settlement type="city">Tours</settlement>
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<series>
<title level="j">JIMD reports</title>
<idno type="ISSN">2192-8304</idno>
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<date when="2017" type="published">2017</date>
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<front>
<div type="abstract" xml:lang="en">
<p>
<b>BACKGROUND</b>
</p>
<p>Several studies have highlighted disturbance of redox homeostasis in patients with phenylketonuria (PKU) which may be associated with neurological disorders observed in patients, especially during adulthood when phenylalanine restrictive diets are not maintained. The aim of this study was to assess the antioxidant profile in a cohort of PKU patients in comparison to the controls and to evaluate its relation to biochemical parameters especially phenylalaninemia.</p>
</div>
<div type="abstract" xml:lang="en">
<p>
<b>METHODS</b>
</p>
<p>We measured RNA expression of 22 antioxidant genes and reactive oxygen species (ROS) levels in white blood cells of 10 PKU patients and 10 age- and gender-matched controls. We also assessed plasma amino acids, vitamins, oligo-elements, and urinary organic acids concentrations. Then we evaluated the relationship between redox status and biochemical parameters.</p>
</div>
<div type="abstract" xml:lang="en">
<p>
<b>RESULTS</b>
</p>
<p>In addition to expected biochemical disturbances, we highlighted a significant global decrease of antioxidant genes expression in PKU patients in comparison to the controls. This global decrease of antioxidant genes expression, including various isoforms of peroxiredoxins, glutaredoxins, glutathione peroxidases, and superoxide dismutases, was significantly correlated to hyperphenylalaninemia.</p>
</div>
<div type="abstract" xml:lang="en">
<p>
<b>CONCLUSION</b>
</p>
<p>This study is the first to evaluate the expression of 22 antioxidant genes in white blood cells regarding biochemical parameters in PKU. These findings highlight the association of hyperphenylalaninemia with antioxidant genes expression. New experiments to specify the role of oxidative stress in PKU pathogenesis may be useful in suggesting new recommendations in PKU management and new therapeutic trials based on antioxidant defenses.</p>
</div>
</front>
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<Year>2020</Year>
<Month>09</Month>
<Day>29</Day>
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<ISSN IssnType="Print">2192-8304</ISSN>
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<Volume>37</Volume>
<PubDate>
<Year>2017</Year>
</PubDate>
</JournalIssue>
<Title>JIMD reports</Title>
<ISOAbbreviation>JIMD Rep</ISOAbbreviation>
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<ArticleTitle>Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria.</ArticleTitle>
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<MedlinePgn>73-83</MedlinePgn>
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<Abstract>
<AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Several studies have highlighted disturbance of redox homeostasis in patients with phenylketonuria (PKU) which may be associated with neurological disorders observed in patients, especially during adulthood when phenylalanine restrictive diets are not maintained. The aim of this study was to assess the antioxidant profile in a cohort of PKU patients in comparison to the controls and to evaluate its relation to biochemical parameters especially phenylalaninemia.</AbstractText>
<AbstractText Label="METHODS" NlmCategory="METHODS">We measured RNA expression of 22 antioxidant genes and reactive oxygen species (ROS) levels in white blood cells of 10 PKU patients and 10 age- and gender-matched controls. We also assessed plasma amino acids, vitamins, oligo-elements, and urinary organic acids concentrations. Then we evaluated the relationship between redox status and biochemical parameters.</AbstractText>
<AbstractText Label="RESULTS" NlmCategory="RESULTS">In addition to expected biochemical disturbances, we highlighted a significant global decrease of antioxidant genes expression in PKU patients in comparison to the controls. This global decrease of antioxidant genes expression, including various isoforms of peroxiredoxins, glutaredoxins, glutathione peroxidases, and superoxide dismutases, was significantly correlated to hyperphenylalaninemia.</AbstractText>
<AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">This study is the first to evaluate the expression of 22 antioxidant genes in white blood cells regarding biochemical parameters in PKU. These findings highlight the association of hyperphenylalaninemia with antioxidant genes expression. New experiments to specify the role of oxidative stress in PKU pathogenesis may be useful in suggesting new recommendations in PKU management and new therapeutic trials based on antioxidant defenses.</AbstractText>
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<LastName>Veyrat-Durebex</LastName>
<ForeName>Charlotte</ForeName>
<Initials>C</Initials>
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<Affiliation>Laboratoire de biochimie et biologie moléculaire, hôpital Bretonneau CHRU de Tours, Tours, France. charlotte.veyrat@live.fr.</Affiliation>
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<AffiliationInfo>
<Affiliation>INSERM U930, Université François Rabelais Tours, Tours, France. charlotte.veyrat@live.fr.</Affiliation>
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<LastName>Debeissat</LastName>
<ForeName>Christelle</ForeName>
<Initials>C</Initials>
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<Affiliation>CNRS UMR 7292 - équipe LNOx, Université François Rabelais Tours, Tours, France.</Affiliation>
</AffiliationInfo>
<AffiliationInfo>
<Affiliation>Service d'hématologie biologique, CHRU de Tours, Tours, France.</Affiliation>
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<LastName>Blasco</LastName>
<ForeName>Hélène</ForeName>
<Initials>H</Initials>
<AffiliationInfo>
<Affiliation>Laboratoire de biochimie et biologie moléculaire, hôpital Bretonneau CHRU de Tours, Tours, France.</Affiliation>
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<AffiliationInfo>
<Affiliation>INSERM U930, Université François Rabelais Tours, Tours, France.</Affiliation>
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<ForeName>Franck</ForeName>
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<Affiliation>Laboratoire de biochimie et biologie moléculaire, hôpital Bretonneau CHRU de Tours, Tours, France.</Affiliation>
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<AffiliationInfo>
<Affiliation>INSERM U930, Université François Rabelais Tours, Tours, France.</Affiliation>
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<LastName>Henique</LastName>
<ForeName>Hélène</ForeName>
<Initials>H</Initials>
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<Affiliation>Service de médecine interne, CHRU de Tours, Tours, France.</Affiliation>
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<AffiliationInfo>
<Affiliation>INSERM U1069, Université François Rabelais Tours, Tours, France.</Affiliation>
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<LastName>Emond</LastName>
<ForeName>Patrick</ForeName>
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<Affiliation>INSERM U930, Université François Rabelais Tours, Tours, France.</Affiliation>
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<LastName>Antar</LastName>
<ForeName>Catherine</ForeName>
<Initials>C</Initials>
<AffiliationInfo>
<Affiliation>Laboratoire de biochimie et biologie moléculaire, hôpital Bretonneau CHRU de Tours, Tours, France.</Affiliation>
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<AffiliationInfo>
<Affiliation>INSERM U930, Université François Rabelais Tours, Tours, France.</Affiliation>
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<LastName>Gissot</LastName>
<ForeName>Valérie</ForeName>
<Initials>V</Initials>
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<Affiliation>INSERM CIC 1415, CHRU de Tours, Tours, France.</Affiliation>
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<LastName>Herault</LastName>
<ForeName>Olivier</ForeName>
<Initials>O</Initials>
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<Affiliation>CNRS UMR 7292 - équipe LNOx, Université François Rabelais Tours, Tours, France.</Affiliation>
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<AffiliationInfo>
<Affiliation>Service d'hématologie biologique, CHRU de Tours, Tours, France.</Affiliation>
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<LastName>Maillot</LastName>
<ForeName>François</ForeName>
<Initials>F</Initials>
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<Affiliation>Service de médecine interne, CHRU de Tours, Tours, France.</Affiliation>
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<AffiliationInfo>
<Affiliation>INSERM U1069, Université François Rabelais Tours, Tours, France.</Affiliation>
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<Day>15</Day>
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<Keyword MajorTopicYN="N">PKU</Keyword>
<Keyword MajorTopicYN="N">Phenylketonuria</Keyword>
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<name sortKey="Herault, Olivier" sort="Herault, Olivier" uniqKey="Herault O" first="Olivier" last="Herault">Olivier Herault</name>
<name sortKey="Maillot, Francois" sort="Maillot, Francois" uniqKey="Maillot F" first="François" last="Maillot">François Maillot</name>
<name sortKey="Maillot, Francois" sort="Maillot, Francois" uniqKey="Maillot F" first="François" last="Maillot">François Maillot</name>
<name sortKey="Patin, Franck" sort="Patin, Franck" uniqKey="Patin F" first="Franck" last="Patin">Franck Patin</name>
<name sortKey="Patin, Franck" sort="Patin, Franck" uniqKey="Patin F" first="Franck" last="Patin">Franck Patin</name>
<name sortKey="Veyrat Durebex, Charlotte" sort="Veyrat Durebex, Charlotte" uniqKey="Veyrat Durebex C" first="Charlotte" last="Veyrat-Durebex">Charlotte Veyrat-Durebex</name>
</country>
</tree>
</affiliations>
</record>

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HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000356 | SxmlIndent | more

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Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Bois
   |area=    GlutaredoxinV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     pubmed:28293905
   |texte=   Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Blood Cells of Adult Patients with Phenylketonuria.
}}

Pour générer des pages wiki

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Data generation: Wed Nov 18 15:13:42 2020. Site generation: Wed Nov 18 15:16:12 2020