Genome Sequencing Variations in the Octodon degus, an Unconventional Natural Model of Aging and Alzheimer's Disease

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dc.contributor.affiliationUniversity of London
dc.contributor.affiliationUniversity College London
dc.contributor.affiliationUniversidad de Chile
dc.contributor.affiliationUniversity of California System
dc.contributor.affiliationUniversity of California Irvine
dc.contributor.affiliationUniversity of Parma
dc.contributor.affiliationUniversity of Southern California
dc.contributor.affiliationClinica Alemana
dc.contributor.affiliationUniversidad del Desarrollo
dc.contributor.affiliationUniversidad Catolica de la Santisima Concepcion
dc.contributor.affiliationUniversidad de Las Americas - Chile
dc.contributor.affiliationScripps Research Institute
dc.contributor.affiliationUniversity of Teesside
dc.contributor.authorHurley, Michael J.
dc.contributor.authorUrra, Claudio
dc.contributor.authorGarduño, B. Maximiliano
dc.contributor.authorBruno, Agostino
dc.contributor.authorKimbell, Allison
dc.contributor.authorWilkinson, Brent
dc.contributor.authorMarino-Buslje, Cristina
dc.contributor.authorEzquer, Marcelo
dc.contributor.authorEzquer, Fernando
dc.contributor.authorAburto, Pedro F.
dc.contributor.authorPoulin, Elie
dc.contributor.authorVasquez, Rodrigo A.
dc.contributor.authorDeacon, Robert
dc.contributor.authorÁvila, Ariel
dc.contributor.authorAltimiras, Francisco
dc.contributor.authorWhitney Vanderklish, Peter
dc.contributor.authorZampieri, Guido
dc.contributor.authorAngione, Claudio
dc.contributor.authorConstantino, Gabriele
dc.contributor.authorHolmes, Todd C.
dc.contributor.authorCoba, Marcelo P.
dc.contributor.authorXu, Xiangmin
dc.contributor.authorCogram, Patricia
dc.date.accessioned2024-09-03T19:17:49Z
dc.date.available2024-09-03T19:17:49Z
dc.date.issued2022-06-30
dc.description.abstractThe degu ( Octodon degus ) is a diurnal long-lived rodent that can spontaneously develop molecular and behavioral changes that mirror those seen in human aging. With age some degu, but not all individuals, develop cognitive decline and brain pathology like that observed in Alzheimer's disease including neuroinflammation, hyperphosphorylated tau and amyloid plaques, together with other co-morbidities associated with aging such as macular degeneration, cataracts, alterations in circadian rhythm, diabetes and atherosclerosis. Here we report the whole-genome sequencing and analysis of the degu genome, which revealed unique features and molecular adaptations consistent with aging and Alzheimer's disease. We identified single nucleotide polymorphisms in genes associated with Alzheimer's disease including a novel apolipoprotein E ( Apoe ) gene variant that correlated with an increase in amyloid plaques in brain and modified the in silico predicted degu APOE protein structure and functionality. The reported genome of an unconventional long-lived animal model of aging and Alzheimer's disease offers the opportunity for understanding molecular pathways involved in aging and should help advance biomedical research into treatments for Alzheimer's disease.
dc.description.sponsorshipNIA NIH HHS [RF1 AG065675] Funding Source: Medline
dc.format.mimetypeapplication/pdf
dc.identifier.citationFrontiers in Aging Neuroscience, 14, 894994. https://doi.org/10.3389/fnagi.2022.894994
dc.identifier.doihttps://doi.org/10.3389/fnagi.2022.894994
dc.identifier.folio1200928
dc.identifier.folioGM127102
dc.identifier.folioPAI77180086
dc.identifier.folioAFB-170008
dc.identifier.issn1663-4365
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dc.identifier.orcidhttps://orcid.org/0000-0002-4198-0821
dc.identifier.orcidhttps://orcid.org/0000-0002-3140-7909
dc.identifier.orcidhttps://orcid.org/0000-0002-7696-4215
dc.identifier.orcidhttps://orcid.org/0000-0002-2064-3041
dc.identifier.orcidhttps://orcid.org/0000-0002-4518-5913
dc.identifier.orcidhttps://orcid.org/0000-0001-8022-9283
dc.identifier.orcidhttps://orcid.org/0009-0005-2716-101X
dc.identifier.orcidhttps://orcid.org/0000-0002-6564-1920
dc.identifier.orcidhttps://orcid.org/0000-0003-4309-6789
dc.identifier.orcidhttps://orcid.org/0000-0001-7075-6338
dc.identifier.pmid35860672
dc.identifier.researcheridU-1118-2019
dc.identifier.researcheridC-2654-2012
dc.identifier.researcheridAHC-7601-2022
dc.identifier.researcheridHJH-7472-2023
dc.identifier.researcheridJ-7438-2019
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dc.identifier.scopusauthorid35977981800
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dc.identifier.scopusauthorid57810198900
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dc.identifier.scopusauthorid55706178600
dc.identifier.scopusauthorid6506838276
dc.identifier.urihttps://repositorio.udla.cl/handle/udla/1371
dc.language.isoeng
dc.publisherFRONTIERS MEDIA SA
dc.relation.fundingFraunhofer Chile Research
dc.relation.fundingANID-FONDECYT, (3R01MH115005-02S1, 1200928)
dc.relation.fundingAgencia Nacional de Investigación y Desarrollo, ANID, (R35 GM127102, EX-CONICYT PAI77180086)
dc.relation.fundingAgencia Nacional de Investigación y Desarrollo, ANID
dc.relation.fundingNational Institutes of Health, NIH, (R24AG073198)
dc.relation.fundingNational Institutes of Health, NIH
dc.relation.fundingEuropean Commission, EC, (115005)
dc.relation.fundingEuropean Commission, EC
dc.relation.fundingNIA NIH HHS [RF1 AG065675] Funding Source: Medline
dc.relation.isindexedbyWeb of Science
dc.relation.issn1663-4365
dc.rightsCreative Commons Attribution 4.0 International
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.sourceFRONTIERS IN AGING NEUROSCIENCE
dc.source.urihttps://doi.org/10.3389/fnagi.2022.894994
dc.subjectAlzheimer's disease
dc.subjectaging
dc.subjectgenome
dc.subjectAPOE
dc.subjectamyloids
dc.subjectlipid droplets
dc.subjectOctodon degus
dc.subjectdrug development
dc.subject.lcshEnvejecimiento
dc.subject.lcshEnfermedad de Alzheimer
dc.subject.lcshDesarrollo de drogas
dc.subject.lcshGenomas
dc.subject.oecd13 Ciencias Médicas y de la Salud
dc.titleGenome Sequencing Variations in the Octodon degus, an Unconventional Natural Model of Aging and Alzheimer's Disease
dc.title.alternativeGenome Sequencing Variations in the Octodon degus, an Unconventional Natural Model of Aging and Alzheimer's Disease.
dc.typejournal article
dc.type.coarhttp://purl.org/coar/resource_type/c_6501
dc.type.driverinfo:eu-repo/semantics/article
dc.udla.catalogadorCBM
oaire.citation.titleFRONTIERS IN AGING NEUROSCIENCE
oaire.citation.volume14
oaire.fundingReference.awardNumber1200928
oaire.fundingReference.awardNumberGM127102
oaire.fundingReference.awardNumberPAI77180086
oaire.fundingReference.awardNumberAFB-170008
oaire.fundingReference.funderNameAgencia Nacional de Investigación y Desarrollo (ANID)
udla.curacion.controljmvg
udla.oecd.area3 Ciencias Médicas y de la Salud

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