Unknown

Dataset Information

0

Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease.

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 Aβ42, 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.

SUBMITTER: Bagaria J 

PROVIDER: S-EPMC9226417 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

Whole Exome Sequencing Reveals a Novel APOE Mutation in a Patient With Sporadic Early-Onset Alzheimer's Disease.

Bagaria Jaya J   Moon Yeonsil Y   Bagyinszky Eva E   Shim Kyu Hwan KH   An Seong Soo A SSA   Kim SangYun S   Han Seol Heui SH  

Frontiers in neurology 20220610

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 <i>APOE</i> Leu159Pro heterozygous mutation was revealed upon Whole Exome Sequence analysis. The proband's CSF showed downregulated levels of Aβ42, with unchanged Tau levels. The mutation is  ...[more]

Similar Datasets

Unknown Whole-Exome Sequencing Analysis of Alzheimer's Disease in Non-APOE*4 Carriers.
| S-EPMC7484092 | biostudies-literature
Unknown Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array.
| S-EPMC5995152 | biostudies-literature
Unknown Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.
| S-EPMC5065298 | biostudies-literature
Unknown Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation.
| S-EPMC5166571 | biostudies-literature
Unknown Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.
| S-EPMC4118784 | biostudies-literature
Unknown Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.
| S-EPMC4930083 | biostudies-other
Unknown Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas.
| S-EPMC4446457 | biostudies-literature
Unknown Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis.
| S-EPMC4426057 | biostudies-literature
Unknown Whole exome sequencing identified a new compound heterozygous PRKN mutation in a Chinese family with early-onset Parkinson's disease.
| S-EPMC7240198 | biostudies-literature
Unknown Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.
| S-EPMC10198284 | biostudies-literature