Disruption in iron homeostasis and impaired activity of iron-sulfur cluster containing proteins in the yeast model of Shwachman-Diamond syndrome.
Identifieur interne : 000144 ( Main/Exploration ); précédent : 000143; suivant : 000145Disruption in iron homeostasis and impaired activity of iron-sulfur cluster containing proteins in the yeast model of Shwachman-Diamond syndrome.
Auteurs : Ayushi Jain [Thaïlande] ; Phubed Nilatawong [Thaïlande] ; Narinrat Mamak [Thaïlande] ; Laran T. Jensen [Thaïlande] ; Amornrat Naranuntarat Jensen [Thaïlande]Source :
- Cell & bioscience [ 2045-3701 ] ; 2020.
Abstract
Background
Shwachman-Diamond syndrome (SDS) is a congenital disease that affects the bone marrow, skeletal system, and pancreas. The majority of patients with SDS have mutations in the
Results
Deletion of
Conclusions
We propose that oxidative stress from
DOI: 10.1186/s13578-020-00468-2
PubMed: 32944219
PubMed Central: PMC7488397
Affiliations:
Links toward previous steps (curation, corpus...)
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Jensen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok, 10400 Thailand.</nlm:affiliation><country xml:lang="fr">Thaïlande</country><wicri:regionArea>Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok</wicri:regionArea><wicri:noRegion>Bangkok</wicri:noRegion></affiliation></author><author><name sortKey="Jensen, Amornrat Naranuntarat" sort="Jensen, Amornrat Naranuntarat" uniqKey="Jensen A" first="Amornrat Naranuntarat" last="Jensen">Amornrat Naranuntarat Jensen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pathobiology, Faculty of Science, Mahidol University, 272 Rama 6 Road, Bangkok, 10400 Thailand.</nlm:affiliation><country xml:lang="fr">Thaïlande</country><wicri:regionArea>Department of Pathobiology, Faculty of Science, Mahidol University, 272 Rama 6 Road, Bangkok</wicri:regionArea><wicri:noRegion>Bangkok</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:affiliation>Pathology Information and Learning Center, Department of Pathobiology, Faculty of Science, Mahidol University, Bangkok, 10400 Thailand.</nlm:affiliation><country xml:lang="fr">Thaïlande</country><wicri:regionArea>Pathology Information and Learning Center, Department of Pathobiology, Faculty of Science, Mahidol University, Bangkok</wicri:regionArea><wicri:noRegion>Bangkok</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:affiliation>Center of Excellence on Environmental Health and Toxicology (EHT), Bangkok, Thailand.</nlm:affiliation><country xml:lang="fr">Thaïlande</country><wicri:regionArea>Center of Excellence on Environmental Health and Toxicology (EHT), Bangkok</wicri:regionArea><wicri:noRegion>Bangkok</wicri:noRegion></affiliation></author></analytic><series><title level="j">Cell & bioscience</title><idno type="ISSN">2045-3701</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"><p><b>Background</b></p><p>Shwachman-Diamond syndrome (SDS) is a congenital disease that affects the bone marrow, skeletal system, and pancreas. The majority of patients with SDS have mutations in the </p></div><div type="abstract" xml:lang="en"><p><b>Results</b></p><p>Deletion of </p></div><div type="abstract" xml:lang="en"><p><b>Conclusions</b></p><p>We propose that oxidative stress from </p></div></front></TEI><pubmed><MedlineCitation Status="PubMed-not-MEDLINE" Owner="NLM"><PMID Version="1">32944219</PMID><DateRevised><Year>2020</Year><Month>09</Month><Day>28</Day></DateRevised><Article PubModel="Electronic-eCollection"><Journal><ISSN IssnType="Print">2045-3701</ISSN><JournalIssue CitedMedium="Print"><Volume>10</Volume><PubDate><Year>2020</Year></PubDate></JournalIssue><Title>Cell & bioscience</Title><ISOAbbreviation>Cell Biosci</ISOAbbreviation></Journal><ArticleTitle>Disruption in iron homeostasis and impaired activity of iron-sulfur cluster containing proteins in the yeast model of Shwachman-Diamond syndrome.</ArticleTitle><Pagination><MedlinePgn>105</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1186/s13578-020-00468-2</ELocationID><Abstract><AbstractText Label="Background" NlmCategory="UNASSIGNED">Shwachman-Diamond syndrome (SDS) is a congenital disease that affects the bone marrow, skeletal system, and pancreas. The majority of patients with SDS have mutations in the <i>SBDS</i> gene, involved in ribosome biogenesis as well as other processes. A <i>Saccharomyces cerevisiae</i> model of SDS, lacking Sdo1p the yeast orthologue of SBDS, was utilized to better understand the molecular pathogenesis in the development of this disease.</AbstractText><AbstractText Label="Results" NlmCategory="UNASSIGNED">Deletion of <i>SDO1</i> resulted in a three-fold over-accumulation of intracellular iron. Phenotypes associated with impaired iron-sulfur (ISC) assembly, up-regulation of the high affinity iron uptake pathway, and reduced activities of ISC containing enzymes aconitase and succinate dehydrogenase, were observed in <i>sdo1</i>∆ yeast. In cells lacking Sdo1p, elevated levels of reactive oxygen species (ROS) and protein oxidation were reduced with iron chelation, using a cell impermeable iron chelator. In addition, the low activity of manganese superoxide dismutase (Sod2p) seen in <i>sdo1</i>∆ cells was improved with iron chelation, consistent with the presence of reactive iron from the ISC assembly pathway. In yeast lacking Sdo1p, the mitochondrial voltage-dependent anion channel (VDAC) Por1p is over-expressed and its deletion limits iron accumulation and increases activity of aconitase and succinate dehydrogenase.</AbstractText><AbstractText Label="Conclusions" NlmCategory="UNASSIGNED">We propose that oxidative stress from <i>POR1</i> over-expression, resulting in impaired activity of ISC containing proteins and disruptions in iron homeostasis, may play a role in disease pathogenesis in SDS patients.</AbstractText><CopyrightInformation>© The Author(s) 2020.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Jain</LastName><ForeName>Ayushi</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Pathobiology, Faculty of Science, Mahidol University, 272 Rama 6 Road, Bangkok, 10400 Thailand.</Affiliation><Identifier Source="GRID">grid.10223.32</Identifier><Identifier Source="ISNI">0000 0004 1937 0490</Identifier></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nilatawong</LastName><ForeName>Phubed</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Pathobiology, Faculty of Science, Mahidol University, 272 Rama 6 Road, Bangkok, 10400 Thailand.</Affiliation><Identifier Source="GRID">grid.10223.32</Identifier><Identifier Source="ISNI">0000 0004 1937 0490</Identifier></AffiliationInfo><AffiliationInfo><Affiliation>Division of Biopharmacy, Faculty of Pharmaceutical Sciences, Ubon Ratchathani University, Ubon Ratchathani, 34190 Thailand.</Affiliation><Identifier Source="GRID">grid.412827.a</Identifier><Identifier Source="ISNI">0000 0001 1203 8311</Identifier></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mamak</LastName><ForeName>Narinrat</ForeName><Initials>N</Initials><AffiliationInfo><Affiliation>Toxicology Graduate Program, Faculty of Science, Mahidol University, Bangkok, 10400 Thailand.</Affiliation><Identifier Source="GRID">grid.10223.32</Identifier><Identifier Source="ISNI">0000 0004 1937 0490</Identifier></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jensen</LastName><ForeName>Laran T</ForeName><Initials>LT</Initials><AffiliationInfo><Affiliation>Department of Biochemistry, Faculty of Science, Mahidol University, Bangkok, 10400 Thailand.</Affiliation><Identifier Source="GRID">grid.10223.32</Identifier><Identifier Source="ISNI">0000 0004 1937 0490</Identifier></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jensen</LastName><ForeName>Amornrat Naranuntarat</ForeName><Initials>AN</Initials><Identifier Source="ORCID">0000-0003-2528-8795</Identifier><AffiliationInfo><Affiliation>Department of Pathobiology, Faculty of Science, Mahidol University, 272 Rama 6 Road, Bangkok, 10400 Thailand.</Affiliation><Identifier Source="GRID">grid.10223.32</Identifier><Identifier Source="ISNI">0000 0004 1937 0490</Identifier></AffiliationInfo><AffiliationInfo><Affiliation>Pathology Information and Learning Center, Department of Pathobiology, Faculty of Science, Mahidol University, Bangkok, 10400 Thailand.</Affiliation><Identifier Source="GRID">grid.10223.32</Identifier><Identifier Source="ISNI">0000 0004 1937 0490</Identifier></AffiliationInfo><AffiliationInfo><Affiliation>Center of Excellence on Environmental Health and Toxicology (EHT), Bangkok, Thailand.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2020</Year><Month>09</Month><Day>11</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Cell Biosci</MedlineTA><NlmUniqueID>101561195</NlmUniqueID><ISSNLinking>2045-3701</ISSNLinking></MedlineJournalInfo><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Iron overload</Keyword><Keyword MajorTopicYN="N">Iron sulfur cluster</Keyword><Keyword MajorTopicYN="N">POR1 overexpression</Keyword><Keyword MajorTopicYN="N">Shwachman-diamond syndrome</Keyword><Keyword MajorTopicYN="N">Yeast</Keyword></KeywordList><CoiStatement>Competing interestsThe authors declare no conflict of interest.</CoiStatement></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2020</Year><Month>06</Month><Day>22</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2020</Year><Month>09</Month><Day>04</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2020</Year><Month>9</Month><Day>18</Day><Hour>5</Hour><Minute>50</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2020</Year><Month>9</Month><Day>19</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2020</Year><Month>9</Month><Day>19</Day><Hour>6</Hour><Minute>1</Minute></PubMedPubDate></History><PublicationStatus>epublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">32944219</ArticleId><ArticleId 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