Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Diseaseopen access
- Authors
- Bagaria, Jaya; Moon, Yeonsil; Bagyinszky, Eva; Shim, Kyu Hwan; An, Seong Soo A.; Kim, SangYun; Han, Seol Heui
- Issue Date
- Jun-2022
- Publisher
- FRONTIERS MEDIA SA
- Keywords
- Low-Density Lipoprotein Receptor (LDLR); APOE; Leu159Pro; early-onset Alzheimer' s disease; novel mutation; Whole Exome Sequence (WES) analysis
- Citation
- FRONTIERS IN NEUROLOGY, v.13
- Journal Title
- FRONTIERS IN NEUROLOGY
- Volume
- 13
- URI
- https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/85268
- DOI
- 10.3389/fneur.2022.899644
- ISSN
- 1664-2295
- 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.
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