Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease
DC Field | Value | Language |
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dc.contributor.author | Bagaria, Jaya | - |
dc.contributor.author | Moon, Yeonsil | - |
dc.contributor.author | Bagyinszky, Eva | - |
dc.contributor.author | Shim, Kyu Hwan | - |
dc.contributor.author | An, Seong Soo A. | - |
dc.contributor.author | Kim, SangYun | - |
dc.contributor.author | Han, Seol Heui | - |
dc.date.accessioned | 2022-08-23T06:40:11Z | - |
dc.date.available | 2022-08-23T06:40:11Z | - |
dc.date.created | 2022-08-19 | - |
dc.date.issued | 2022-06 | - |
dc.identifier.issn | 1664-2295 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/85268 | - |
dc.description.abstract | Apolipoprotein (APOE) is implicated and verified as the main risk factor for early-onset Alzheimer's disease (AD). APOE is a protein that binds to lipids and is involved in cholesterol stability. Our paper reports a case of a sporadic early-onset AD (sEOAD) patient of a 54-year-old Korean man, where a novel APOE Leu159Pro heterozygous mutation was revealed upon Whole Exome Sequence analysis. The proband's CSF showed downregulated levels of A beta 42, with unchanged Tau levels. The mutation is in the Low-Density Lipoprotein Receptor (LDLR) region of the APOE gene, which mediates the clearance of APOE lipoproteins. LDLR works as a high-affinity point for APOE. Studies suggest that APOE-LDLR interplay could have varying effects. The LDLR receptor pathway has been previously suggested as a therapeutic target to treat tauopathy. However, the APOE-LDLR interaction has also shown a significant correlation with memory retention. Leu159Pro could be an interesting mutation that could be responsible for a less damaging pattern of AD by suppressing tau-association neurodegeneration while affecting the patient's memory retention and cognitive performance. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | FRONTIERS MEDIA SA | - |
dc.relation.isPartOf | FRONTIERS IN NEUROLOGY | - |
dc.title | Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease | - |
dc.type | Article | - |
dc.type.rims | ART | - |
dc.description.journalClass | 1 | - |
dc.identifier.wosid | 000815768000001 | - |
dc.identifier.doi | 10.3389/fneur.2022.899644 | - |
dc.identifier.bibliographicCitation | FRONTIERS IN NEUROLOGY, v.13 | - |
dc.description.isOpenAccess | Y | - |
dc.identifier.scopusid | 2-s2.0-85133494382 | - |
dc.citation.title | FRONTIERS IN NEUROLOGY | - |
dc.citation.volume | 13 | - |
dc.contributor.affiliatedAuthor | Bagaria, Jaya | - |
dc.contributor.affiliatedAuthor | Bagyinszky, Eva | - |
dc.contributor.affiliatedAuthor | Shim, Kyu Hwan | - |
dc.contributor.affiliatedAuthor | An, Seong Soo A. | - |
dc.type.docType | Article | - |
dc.subject.keywordAuthor | Low-Density Lipoprotein Receptor (LDLR) | - |
dc.subject.keywordAuthor | APOE | - |
dc.subject.keywordAuthor | Leu159Pro | - |
dc.subject.keywordAuthor | early-onset Alzheimer&apos | - |
dc.subject.keywordAuthor | s disease | - |
dc.subject.keywordAuthor | novel mutation | - |
dc.subject.keywordAuthor | Whole Exome Sequence (WES) analysis | - |
dc.subject.keywordPlus | APOLIPOPROTEIN-E MUTATION | - |
dc.subject.keywordPlus | RECEPTOR-BINDING DOMAIN | - |
dc.subject.keywordPlus | CEREBROSPINAL-FLUID A-BETA(42) | - |
dc.subject.keywordPlus | DENSITY-LIPOPROTEIN RECEPTOR | - |
dc.subject.keywordPlus | CSF BIOMARKERS | - |
dc.subject.keywordPlus | LDL RECEPTOR | - |
dc.subject.keywordPlus | GENE | - |
dc.subject.keywordPlus | IDENTIFICATION | - |
dc.subject.keywordPlus | GLOMERULOPATHY | - |
dc.subject.keywordPlus | ASSOCIATION | - |
dc.relation.journalResearchArea | Neurosciences & Neurology | - |
dc.relation.journalWebOfScienceCategory | Clinical Neurology | - |
dc.relation.journalWebOfScienceCategory | Neurosciences | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
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