Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article 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 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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9226417 | PMC |
| http://dx.doi.org/10.3389/fneur.2022.899644 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Down syndrome and a presenilin 2 variant: dual genetic risk of Alzheimer's disease.
Acta Neuropathol
September 2025
Department of Laboratory Medicine and Pathology, University of Washington, 325 9th Ave, Seattle, WA, 98104, USA.
Early onset familial Alzheimer's disease (EOFAD) is rare compared to sporadic AD, but dominant variants in genes involved in amyloid β (Aβ) processing are well-described. One such variant is in the presenilin 2 (PSEN2) gene, N141I, and was first described in a family with Volga German descent. Separately, individuals with Down syndrome (DS) are also at risk for early onset AD, having an extra copy of an amyloid precursor protein gene.
View Article and Find Full Text PDFA Novel α-Synuclein K58N Missense Variant in a Patient with Parkinson's Disease.
Mov Disord
September 2025
University Medical Center Göttingen, Department of Experimental Neurodegeneration, Center for Biostructural Imaging of Neurodegeneration, Göttingen, Germany.
Background: Parkinson's disease (PD) is a complex multifactorial disorder with a genetic component in about 15% of cases. Multiplications and point mutations in SNCA gene, encoding α-synuclein (aSyn), are linked to rare familial forms of PD.
Objective: Our goal was to assess the clinical presentation and the biological effects of a novel K58N aSyn mutation identified in a patient with PD.
and as Modifiers of Age of Onset in Autosomal-Dominant Early-Onset Alzheimer's Disease Caused by the A431E Variant.
Int J Mol Sci
August 2025
División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara 44340, Jalisco, Mexico.
While most of the Alzheimer's disease (AD) cases are sporadic and manifest after age 65 (late-onset AD, LOAD), a subset of patients develop symptoms earlier in life (early-onset, EOAD) due to mutations in the , or genes with an autosomal-dominant inheritance pattern (AD-EOAD). In this study, we examined the association between age of onset (AoO) and first clinical manifestation (FCM) with the and genotypes, previously described as modifiers of clinical phenotypes in LOAD and EOAD in 88 individuals clinically diagnosed with AD-EOAD due to the A431E variant (39 females, 49 males). We classified the population according to their genotype (, and and G/G, G/A, and A/A) and FCM (cognitive, behavioral, motor, and memory impaired).
View Article and Find Full Text PDFCompound Heterozygous Structural Variants in Cases with Unsolved PRKN-Associated Parkinson's Disease.
Mov Disord
August 2025
Non-Coding RNAs and RNA-Based Therapeutics, Italian Institute of Technology (IIT), CMP3VdA, Aosta, Italy.
Background: Biallelic mutations in the PRKN gene are a common cause of early-onset Parkinson's disease (EOPD). In addition to single nucleotide variants, structural variants contribute substantially to the mutational profile of PRKN. A significant portion of patients with EOPD remains genetically unsolved.
View Article and Find Full Text PDFHand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review.
Mol Genet Metab Rep
September 2025
Paediatric Gastroenterology and Digestive Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Background: Mucolipidosis (ML) is a rare autosomal recessive lysosomal disorder with variable onset and severity: MLII, characterized by early onset and rapid progression, and MLIII, milder with late onset and prolonged survival. ML is due to mutations in the Golgi enzyme uridine diphosphate--acetylglucosamine-1-phosphotransferase, whose subunits are encoded by and genes. This report presents a particular case of infantile early-onset MLIII-gamma and emphasizes that articular manifestations can be a sign of a metabolic disease rather than a rheumatological or orthopedic one.
View Article and Find Full Text PDF