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Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease
DC Field | Value | Language |
---|---|---|
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 | 2022-09-29T03:18:18Z | - |
dc.date.available | 2022-09-29T03:18:18Z | - |
dc.date.created | 2022-07-12 | - |
dc.date.issued | 2022-06 | - |
dc.identifier.citation | Frontiers in Neurology, Vol.13, p. 899644 | - |
dc.identifier.issn | 1664-2295 | - |
dc.identifier.uri | https://hdl.handle.net/10371/184635 | - |
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.publisher | Frontiers Media S.A. | - |
dc.title | Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease | - |
dc.type | Article | - |
dc.identifier.doi | 10.3389/fneur.2022.899644 | - |
dc.citation.journaltitle | Frontiers in Neurology | - |
dc.identifier.wosid | 000815768000001 | - |
dc.identifier.scopusid | 2-s2.0-85133494382 | - |
dc.citation.startpage | 899644 | - |
dc.citation.volume | 13 | - |
dc.description.isOpenAccess | N | - |
dc.contributor.affiliatedAuthor | Kim, SangYun | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
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