Loss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesis
Identifieur interne : 001A94 ( Ncbi/Curation ); précédent : 001A93; suivant : 001A95Loss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesis
Auteurs : Aurélie M. C. Millet ; Ambre M. Bertholet ; Marlène Daloyau ; Pascal Reynier ; Anne Galinier ; Anne Devin ; Bernd Wissinguer ; Pascale Belenguer ; Noélie DavezacSource :
- Annals of Clinical and Translational Neurology [ 2328-9503 ] ; 2016.
Abstract
Mitochondrial respiration, reactive oxygen species levels, antioxidant defenses, and cell death were characterized by biochemical and in situ approaches in both in vitro and in vivo models of
A decrease in aconitase activity suggesting an increase in reactive oxygene species and an induction of antioxidant defenses was observed in cortices of a murine model as well as in
Our study suggests that the pro‐oxidative state induced by
Url:
DOI: 10.1002/acn3.305
PubMed: 27547769
PubMed Central: 4891995
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000687
- to stream Pmc, to step Curation: Pour aller vers cette notice dans l'étape Curation :000684
- to stream Pmc, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000063
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :001A94
Links to Exploration step
PMC:4891995Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Loss of functional <styled-content style="fixed-case">OPA</styled-content>
1 unbalances redox state: implications in dominant optic atrophy pathogenesis</title>
<author><name sortKey="Millet, Aurelie M C" sort="Millet, Aurelie M C" uniqKey="Millet A" first="Aurélie M. C." last="Millet">Aurélie M. C. Millet</name>
<affiliation><nlm:aff id="acn3305-aff-0001"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bertholet, Ambre M" sort="Bertholet, Ambre M" uniqKey="Bertholet A" first="Ambre M." last="Bertholet">Ambre M. Bertholet</name>
<affiliation><nlm:aff id="acn3305-aff-0001"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Daloyau, Marlene" sort="Daloyau, Marlene" uniqKey="Daloyau M" first="Marlène" last="Daloyau">Marlène Daloyau</name>
<affiliation><nlm:aff id="acn3305-aff-0001"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Reynier, Pascal" sort="Reynier, Pascal" uniqKey="Reynier P" first="Pascal" last="Reynier">Pascal Reynier</name>
<affiliation><nlm:aff id="acn3305-aff-0002"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Galinier, Anne" sort="Galinier, Anne" uniqKey="Galinier A" first="Anne" last="Galinier">Anne Galinier</name>
<affiliation><nlm:aff id="acn3305-aff-0003"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Devin, Anne" sort="Devin, Anne" uniqKey="Devin A" first="Anne" last="Devin">Anne Devin</name>
<affiliation><nlm:aff id="acn3305-aff-0004"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Wissinguer, Bernd" sort="Wissinguer, Bernd" uniqKey="Wissinguer B" first="Bernd" last="Wissinguer">Bernd Wissinguer</name>
<affiliation><nlm:aff id="acn3305-aff-0005"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Belenguer, Pascale" sort="Belenguer, Pascale" uniqKey="Belenguer P" first="Pascale" last="Belenguer">Pascale Belenguer</name>
<affiliation><nlm:aff id="acn3305-aff-0001"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Davezac, Noelie" sort="Davezac, Noelie" uniqKey="Davezac N" first="Noélie" last="Davezac">Noélie Davezac</name>
<affiliation><nlm:aff id="acn3305-aff-0001"></nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">27547769</idno>
<idno type="pmc">4891995</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891995</idno>
<idno type="RBID">PMC:4891995</idno>
<idno type="doi">10.1002/acn3.305</idno>
<date when="2016">2016</date>
<idno type="wicri:Area/Pmc/Corpus">000687</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000687</idno>
<idno type="wicri:Area/Pmc/Curation">000684</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000684</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000063</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000063</idno>
<idno type="wicri:Area/Ncbi/Merge">001A94</idno>
<idno type="wicri:Area/Ncbi/Curation">001A94</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Loss of functional <styled-content style="fixed-case">OPA</styled-content>
1 unbalances redox state: implications in dominant optic atrophy pathogenesis</title>
<author><name sortKey="Millet, Aurelie M C" sort="Millet, Aurelie M C" uniqKey="Millet A" first="Aurélie M. C." last="Millet">Aurélie M. C. Millet</name>
<affiliation><nlm:aff id="acn3305-aff-0001"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Bertholet, Ambre M" sort="Bertholet, Ambre M" uniqKey="Bertholet A" first="Ambre M." last="Bertholet">Ambre M. Bertholet</name>
<affiliation><nlm:aff id="acn3305-aff-0001"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Daloyau, Marlene" sort="Daloyau, Marlene" uniqKey="Daloyau M" first="Marlène" last="Daloyau">Marlène Daloyau</name>
<affiliation><nlm:aff id="acn3305-aff-0001"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Reynier, Pascal" sort="Reynier, Pascal" uniqKey="Reynier P" first="Pascal" last="Reynier">Pascal Reynier</name>
<affiliation><nlm:aff id="acn3305-aff-0002"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Galinier, Anne" sort="Galinier, Anne" uniqKey="Galinier A" first="Anne" last="Galinier">Anne Galinier</name>
<affiliation><nlm:aff id="acn3305-aff-0003"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Devin, Anne" sort="Devin, Anne" uniqKey="Devin A" first="Anne" last="Devin">Anne Devin</name>
<affiliation><nlm:aff id="acn3305-aff-0004"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Wissinguer, Bernd" sort="Wissinguer, Bernd" uniqKey="Wissinguer B" first="Bernd" last="Wissinguer">Bernd Wissinguer</name>
<affiliation><nlm:aff id="acn3305-aff-0005"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Belenguer, Pascale" sort="Belenguer, Pascale" uniqKey="Belenguer P" first="Pascale" last="Belenguer">Pascale Belenguer</name>
<affiliation><nlm:aff id="acn3305-aff-0001"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Davezac, Noelie" sort="Davezac, Noelie" uniqKey="Davezac N" first="Noélie" last="Davezac">Noélie Davezac</name>
<affiliation><nlm:aff id="acn3305-aff-0001"></nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">Annals of Clinical and Translational Neurology</title>
<idno type="eISSN">2328-9503</idno>
<imprint><date when="2016">2016</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><title>Abstract</title>
<sec id="acn3305-sec-0001"><title>Objective</title>
<p><italic><styled-content style="fixed-case">OPA</styled-content>
1</italic>
mutations cause protein haploinsufficiency leading to dominant optic atrophy (<styled-content style="fixed-case">DOA</styled-content>
), an incurable retinopathy with variable severity. Up to 20% of patients also develop extraocular neurological complications. The mechanisms that cause this optic atrophy or its syndromic forms are still unknown. After identifying oxidative stress in a mouse model of the pathology, we sought to determine the consequences of <styled-content style="fixed-case">OPA</styled-content>
1 dysfunction on redox homeostasis.</p>
</sec>
<sec id="acn3305-sec-0002"><title>Methods</title>
<p>Mitochondrial respiration, reactive oxygen species levels, antioxidant defenses, and cell death were characterized by biochemical and in situ approaches in both in vitro and in vivo models of <styled-content style="fixed-case">OPA</styled-content>
1 haploinsufficiency.</p>
</sec>
<sec id="acn3305-sec-0003"><title>Results</title>
<p>A decrease in aconitase activity suggesting an increase in reactive oxygene species and an induction of antioxidant defenses was observed in cortices of a murine model as well as in <styled-content style="fixed-case">OPA</styled-content>
1 downregulated cortical neurons. This increase is associated with a decline in mitochondrial respiration in vitro. Upon exogenous oxidative stress, <styled-content style="fixed-case">OPA</styled-content>
1‐depleted neurons did not further exhibit upregulated antioxidant defenses but were more sensitive to cell death. Finally, low levels of antioxidant enzymes were found in fibroblasts from patients supporting their role as modifier factors.</p>
</sec>
<sec id="acn3305-sec-0004"><title>Interpretation</title>
<p>Our study suggests that the pro‐oxidative state induced by <styled-content style="fixed-case">OPA</styled-content>
1 loss may contribute to <styled-content style="fixed-case">DOA</styled-content>
pathogenesis and that differences in antioxidant defenses can explain the variability in expressivity. Furthermore, antioxidants may be used as therapy as they could prevent or delay DOA symptoms in patients.</p>
</sec>
</div>
</front>
<back><div1 type="bibliography"><listBibl><biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
</listBibl>
</div1>
</back>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonFranceV1/Data/Ncbi/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001A94 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd -nk 001A94 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= ParkinsonFranceV1 |flux= Ncbi |étape= Curation |type= RBID |clé= PMC:4891995 |texte= Loss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesis }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Ncbi/Curation/RBID.i -Sk "pubmed:27547769" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Ncbi/Curation/biblio.hfd \ | NlmPubMed2Wicri -a ParkinsonFranceV1
![]() | This area was generated with Dilib version V0.6.29. | ![]() |