Mitochondrial Fatty Acids and Neurodegenerative Disorders.
Identifieur interne : 000075 ( Main/Exploration ); précédent : 000074; suivant : 000076Mitochondrial Fatty Acids and Neurodegenerative Disorders.
Auteurs : Alexander J. Kastaniotis [Finlande] ; Kaija J. Autio [Finlande] ; Remya R Nair [Royaume-Uni]Source :
- The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry [ 1089-4098 ] ; 2020.
Abstract
Fatty acids in mitochondria, in sensu stricto, arise either as β-oxidation substrates imported via the carnitine shuttle or through de novo synthesis by the mitochondrial fatty acid synthesis (mtFAS) pathway. Defects in mtFAS or processes involved in the generation of the mtFAS product derivative lipoic acid (LA), including iron-sulfur cluster synthesis required for functional LA synthase, have emerged only recently as etiology for neurodegenerative disease. Intriguingly, mtFAS deficiencies very specifically affect CNS function, while LA synthesis and attachment defects have a pleiotropic presentation beyond neurodegeneration. Typical mtFAS defect presentations include optical atrophy, as well as basal ganglia defects associated with dystonia. The phenotype display of patients with mtFAS defects can resemble the presentation of disorders associated with coenzyme A (CoA) synthesis. A recent publication links these processes together based on the requirement of CoA for acyl carrier protein maturation. MtFAS defects, CoA synthesis- as well as Fe-S cluster-deficiencies share lack of LA as a common symptom.
DOI: 10.1177/1073858420936162
PubMed: 32644907
Affiliations:
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Autio</name><affiliation wicri:level="1"><nlm:affiliation>Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu</wicri:regionArea><wicri:noRegion>Oulu</wicri:noRegion></affiliation></author><author><name sortKey="R Nair, Remya" sort="R Nair, Remya" uniqKey="R Nair R" first="Remya" last="R Nair">Remya R Nair</name><affiliation wicri:level="1"><nlm:affiliation>Mammalian Genetics Unit, MRC Harwell Institute, Oxfordshire, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Mammalian Genetics Unit, MRC Harwell Institute, Oxfordshire</wicri:regionArea><wicri:noRegion>Oxfordshire</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2020">2020</date><idno type="RBID">pubmed:32644907</idno><idno type="pmid">32644907</idno><idno type="doi">10.1177/1073858420936162</idno><idno type="wicri:Area/Main/Corpus">000066</idno><idno type="wicri:explorRef" wicri:stream="Main" wicri:step="Corpus" wicri:corpus="PubMed">000066</idno><idno type="wicri:Area/Main/Curation">000066</idno><idno type="wicri:explorRef" wicri:stream="Main" wicri:step="Curation">000066</idno><idno type="wicri:Area/Main/Exploration">000066</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Mitochondrial Fatty Acids and Neurodegenerative Disorders.</title><author><name sortKey="Kastaniotis, Alexander J" sort="Kastaniotis, Alexander J" uniqKey="Kastaniotis A" first="Alexander J" last="Kastaniotis">Alexander J. Kastaniotis</name><affiliation wicri:level="1"><nlm:affiliation>Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu</wicri:regionArea><wicri:noRegion>Oulu</wicri:noRegion></affiliation></author><author><name sortKey="Autio, Kaija J" sort="Autio, Kaija J" uniqKey="Autio K" first="Kaija J" last="Autio">Kaija J. Autio</name><affiliation wicri:level="1"><nlm:affiliation>Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu</wicri:regionArea><wicri:noRegion>Oulu</wicri:noRegion></affiliation></author><author><name sortKey="R Nair, Remya" sort="R Nair, Remya" uniqKey="R Nair R" first="Remya" last="R Nair">Remya R Nair</name><affiliation wicri:level="1"><nlm:affiliation>Mammalian Genetics Unit, MRC Harwell Institute, Oxfordshire, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Mammalian Genetics Unit, MRC Harwell Institute, Oxfordshire</wicri:regionArea><wicri:noRegion>Oxfordshire</wicri:noRegion></affiliation></author></analytic><series><title level="j">The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry</title><idno type="eISSN">1089-4098</idno><imprint><date when="2020" type="published">2020</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Fatty acids in mitochondria, in <i>sensu stricto</i>, arise either as β-oxidation substrates imported <i>via</i> the carnitine shuttle or through <i>de novo</i> synthesis by the mitochondrial fatty acid synthesis (mtFAS) pathway. Defects in mtFAS or processes involved in the generation of the mtFAS product derivative lipoic acid (LA), including iron-sulfur cluster synthesis required for functional LA synthase, have emerged only recently as etiology for neurodegenerative disease. Intriguingly, mtFAS deficiencies very specifically affect CNS function, while LA synthesis and attachment defects have a pleiotropic presentation beyond neurodegeneration. Typical mtFAS defect presentations include optical atrophy, as well as basal ganglia defects associated with dystonia. The phenotype display of patients with mtFAS defects can resemble the presentation of disorders associated with coenzyme A (CoA) synthesis. A recent publication links these processes together based on the requirement of CoA for acyl carrier protein maturation. MtFAS defects, CoA synthesis- as well as Fe-S cluster-deficiencies share lack of LA as a common symptom.</div></front></TEI><pubmed><MedlineCitation Status="Publisher" Owner="NLM"><PMID Version="1">32644907</PMID><DateRevised><Year>2020</Year><Month>07</Month><Day>09</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1089-4098</ISSN><JournalIssue CitedMedium="Internet"><PubDate><Year>2020</Year><Month>Jul</Month><Day>09</Day></PubDate></JournalIssue><Title>The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry</Title><ISOAbbreviation>Neuroscientist</ISOAbbreviation></Journal><ArticleTitle>Mitochondrial Fatty Acids and Neurodegenerative Disorders.</ArticleTitle><Pagination><MedlinePgn>1073858420936162</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1177/1073858420936162</ELocationID><Abstract><AbstractText>Fatty acids in mitochondria, in <i>sensu stricto</i>, arise either as β-oxidation substrates imported <i>via</i> the carnitine shuttle or through <i>de novo</i> synthesis by the mitochondrial fatty acid synthesis (mtFAS) pathway. Defects in mtFAS or processes involved in the generation of the mtFAS product derivative lipoic acid (LA), including iron-sulfur cluster synthesis required for functional LA synthase, have emerged only recently as etiology for neurodegenerative disease. Intriguingly, mtFAS deficiencies very specifically affect CNS function, while LA synthesis and attachment defects have a pleiotropic presentation beyond neurodegeneration. Typical mtFAS defect presentations include optical atrophy, as well as basal ganglia defects associated with dystonia. The phenotype display of patients with mtFAS defects can resemble the presentation of disorders associated with coenzyme A (CoA) synthesis. A recent publication links these processes together based on the requirement of CoA for acyl carrier protein maturation. MtFAS defects, CoA synthesis- as well as Fe-S cluster-deficiencies share lack of LA as a common symptom.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kastaniotis</LastName><ForeName>Alexander J</ForeName><Initials>AJ</Initials><Identifier Source="ORCID">https://orcid.org/0000-0003-3624-9214</Identifier><AffiliationInfo><Affiliation>Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Autio</LastName><ForeName>Kaija J</ForeName><Initials>KJ</Initials><AffiliationInfo><Affiliation>Faculty of Biochemistry and Molecular Medicine, University of Oulu, Oulu, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>R Nair</LastName><ForeName>Remya</ForeName><Initials>R</Initials><Identifier Source="ORCID">https://orcid.org/0000-0001-9007-5740</Identifier><AffiliationInfo><Affiliation>Mammalian Genetics Unit, MRC Harwell Institute, Oxfordshire, UK.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2020</Year><Month>07</Month><Day>09</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Neuroscientist</MedlineTA><NlmUniqueID>9504819</NlmUniqueID><ISSNLinking>1073-8584</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">CoA synthesis</Keyword><Keyword MajorTopicYN="N">CoPAN</Keyword><Keyword MajorTopicYN="N">MEPAN</Keyword><Keyword MajorTopicYN="N">PKAN</Keyword><Keyword MajorTopicYN="N">acyl carrier protein</Keyword><Keyword MajorTopicYN="N">iron-sulfur cluster synthesis</Keyword><Keyword MajorTopicYN="N">lipoic acid</Keyword><Keyword MajorTopicYN="N">mitochondrial fatty acid synthesis</Keyword><Keyword MajorTopicYN="N">neurodegeneration</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2020</Year><Month>7</Month><Day>10</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2020</Year><Month>7</Month><Day>10</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2020</Year><Month>7</Month><Day>10</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>aheadofprint</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">32644907</ArticleId><ArticleId IdType="doi">10.1177/1073858420936162</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Finlande</li><li>Royaume-Uni</li></country></list><tree><country name="Finlande"><noRegion><name sortKey="Kastaniotis, Alexander J" sort="Kastaniotis, Alexander J" uniqKey="Kastaniotis A" first="Alexander J" last="Kastaniotis">Alexander J. Kastaniotis</name></noRegion><name sortKey="Autio, Kaija J" sort="Autio, Kaija J" uniqKey="Autio K" first="Kaija J" last="Autio">Kaija J. Autio</name></country><country name="Royaume-Uni"><noRegion><name sortKey="R Nair, Remya" sort="R Nair, Remya" uniqKey="R Nair R" first="Remya" last="R Nair">Remya R Nair</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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