Athan ES, Lee JH, Arriaga A, Mayeux RP, Tycko B. Polymorphisms in the promoter of the human APP gene: functional evaluation and allele frequencies in Alzheimer disease. (jamanetwork.com)
Amyloid mediates the association of apolipoprotein E e4 allele to cognitive function in older people. (jamanetwork.com)
Concerning sporadic AD, it is known that the presence of the ε4 allele of the apolipoprotein E gene is a susceptibility factor. (touchneurology.com)
Apolipoprotein E: high avidity binding to b-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. (jamanetwork.com)
Association of apolipoprotein E allele e4 with late-onset familial and sporadic Alzheimer's disease. (jamanetwork.com)
Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late-onset families. (jamanetwork.com)
327) Suzuki K, Hirakawa A, Ihara R, Iwata A, Ishii K, Ikeuchi T, Sun C-K, Donohue M, Iwatsubo T: Effect of apolipoprotein E ε4 allele on the progression of cognitive decline in the early stage of Alzheimer's disease. (u-tokyo.ac.jp)
APOE16
It is encoded in humans by the gene APOE. (wikipedia.org)
This substitution occurred somewhere in the 6 million year gap between the primate-human split and the Denisovan-human split, since exactly the same substitutions were found in Denisovan APOE. (wikipedia.org)
The gene, APOE, is mapped to chromosome 19 in a cluster with apolipoprotein C1 (APOC1) and the apolipoprotein C2 (APOC2). (wikipedia.org)
Indeed, the apolipoprotein ε4 isoform is more protective against cognitive decline than other isoforms in some cases, so caution is advised before making determinant statements about the influence of APOE polymorphisms on cognition, development of Alzheimer's disease, cardiovascular disease, telomere shortening, etc. (wikipedia.org)
Apolipoprotein E (APOE) is a lipid-transport protein abundantly expressed in most neurons in the central nervous system. (dovepress.com)
Understanding the mutations in APOE, their structural properties, and their isoforms is important to determine its role in various diseases and to advance the development of therapeutic strategies. (dovepress.com)
Targeting APOE may be a potential approach for diagnosis, risk assessment, prevention, and treatment of various neurodegenerative and cardiovascular diseases in humans. (dovepress.com)
The apolipoprotein E (APOE) gene is located on chromosome 19 and encodes a glycoprotein that is 299 amino acids long. (dovepress.com)
Several major APOE isoforms can be distinguished: E2, E3, and E4. (dovepress.com)
3 In this review, we discuss the biological functions of human APOE and its role in Alzheimer's disease (AD), Parkinson's disease (PD), cardiovascular diseases (CVD), multiple sclerosis (MS), type 2 diabetes mellitus (T2DM), vascular dementia (VD), and ischemic (occlusive) stroke (IS). (dovepress.com)
4 Several functions of APOE were identified in the human body. (dovepress.com)
Sex and APOE e4 carrier effects on atrophy, amyloid PET, and tau PET burden in early-onset Alzheimer's disease Alzheimers Dement. (usc.edu)
Human apoE isoforms differentially regulate brain amyloid-β peptide clearance. (jamanetwork.com)
American College of Medical Genetics/American Society of Human Genetics Working Group on ApoE and Alzheimer's Disease, Statement on use of apolipoprotein E testing for Alzheimer's disease. (jamanetwork.com)
Apolipoprotein E (ApoE) is a major lipid carrier that supports lipid transport and injury repair in the brain. (biomedcentral.com)
The human APOE gene has three polymorphic alleles, namely APOE2 , APOE3 , and APOE4 . (biomedcentral.com)
Amyloid precurs2
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. (jamanetwork.com)
This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. (findzebra.com)
ApoE41
Furthermore, the most common genetic risk factor for AD, apolipoprotein E4 ( APOE4 ), is associated with increased frequency of TDP-43 pathology. (biomedcentral.com)
Alzheimer's4
A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. (jamanetwork.com)
Sorbi SNacmias BForleo PPiancentini SLatorraca SAmaducci L Epistatic effect of APP717 mutation and apolipoprotein E genotype in familial Alzheimer's disease. (jamanetwork.com)
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant. (jamanetwork.com)
19, No. 7, pp. 724/734DOI: 10.1097/gme.0b013e31825a28f2 * 2012 by The North American Menopause Society 2011 NAMS/PFIZER V WULF H. UTIAN ENDOWED LECTURE History and experience: the direction of Alzheimer's disease William E. Reichman, MD1 and Nathan S. Rose, PhD2 As the global population is projected to age substantially in coming decades, the number of individuals who will develop Alzheimer disease (AD) is expected to rise dramatically. (hmamedicalclinic.com)
2019) Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene. (umh.de)
21 allelic mutations have been discovered in the APP gene. (findzebra.com)
AD can be caused by mutations in genes involved in the processing of Aβ, including APP , PSEN1 , and PSEN2 [ 5 ]. (nature.com)
We hypothesize that there might be at least three types of autism susceptibility genes/mutations that can be (i) specific to an individual patient or family, (ii) in a genetically isolated sub-population and (iii) a common factor shared amongst different populations. (neurotransmitter.net)
The genes/mutations could act alone or interact with other genetic and/or epigenetic or environmental factors, causing autism or related disorders. (neurotransmitter.net)
Amyloid plaques and neighbouring non-plaque tissue were microdissected from human brain sections using laser capture microdissection and label-free LC-MS was used to quantify the proteins present. (researchsquare.com)
Neurodegenerative1
We used a previously validated multiplexed 10-min, targeted proteomic assay to assess 54 candidate cerebrospinal fluid (CSF) biomarkers in two independent cohorts comprising individuals with neurodegenerative dementias and healthy controls. (lu.se)
Alleles2
The three major human alleles (E4, E3, E2) arose after the primate-human split around 7.5 million years ago. (wikipedia.org)
These alleles are the by-product of non-synonymous mutations which led to changes in functionality. (wikipedia.org)
APOE31
unreliable medical source] APOE7 is a mutation of APOE3 with two lysine residues replacing glutamic acid residues at positions 244 and 245. (wikipedia.org)
Neurol1
Network Connectivity Alterations across the MAPT Mutation Clinical Spectrum Ann Neurol. (usc.edu)
Genetics1
2003) reviewed the pathology and genetics of APP -related CAA and discussed the different neuropathologic consequences of different APP mutations. (findzebra.com)
Autosomal dominant1
Despite the majority of AD and FTLD cases being sporadic and likely caused by the interaction between genetic and environmental factors, so far it has been observed that clinically typical AD and FTLD can cluster in families and be inherited in an autosomal dominant fashion, suggesting a genetic cause. (touchneurology.com)
Synthetic2
The lower limit of reliable quantification of the assay was 0.18 pg/ml and the antibody pairs recognized Aβ multimers comprised of either synthetic standards, or endogenous oligomers isolated from confirmed human AD and healthy control brain. (jneurosci.org)
The Genetic Architecture of Multimodal Human Brain Age bioRxiv. (usc.edu)
The Genetic Architecture of Biological Age in Nine Human Organ Systems medRxiv. (usc.edu)
Degeneration2
Therefore, potentially, this phenotype could be harnessed to identify individuals at risk and start treatments before degeneration progresses too far. (nature.com)
Prior to 1990, AMD of all forms was often referred to as "senile macular degeneration" or SMD, a reflection of the fact that the vision loss associated with AMD manifests late in life when most affected individuals are looking forward to enjoying retirement activities and maintaining independence. (org.es)
Alzheimer1
In 1906, Alzheimer specifically individual who had this disorder. (hmamedicalclinic.com)
Cohorts1
The increase was seen in three separate human cohorts, totaling 63 AD and 54 controls. (jneurosci.org)
Progression1
Biomarkers are required to identify individuals in the preclinical phase, explain phenotypic diversity, measure progression and estimate prognosis. (lu.se)
Association2
This study explored the association between human leukocyte antigen (HLA) and ESRD. (bvsalud.org)
2019) A genome-wide association study in individuals of African ancestry reveals the importance of the Duffy-null genotype in the assessment of clozapine-related neutropenia. (umh.de)
Risk1
Through cerebrospinal fluid biomarkers, volumetric neuroimaging, functional neuroimaging, and cognitive stresstests, individuals at significant risk for developing dementia can now be identified with greater sensitivity andspecificity. (hmamedicalclinic.com)
Effect1
After the primate-human split, there were four amino acid changes in the human lineage, three of which had no effect on protein function (V174L, A18T, A135V). (wikipedia.org)
Family1
The clustering of DAB1 activates SRC family tyrosine kinases (SFKs), then Reelin-activated SFKs phosphorylate the NMDAR on NR2 subunits, resulting in the potentiation of NMDAR-mediated Ca 2+ influx. (biomedcentral.com)
Protein2
Apolipoprotein E (Apo-E) is a protein involved in the metabolism of fats in the body of mammals. (wikipedia.org)
Camacho MV, Telling G , Kong Q , Gambetti P , Notari S . Role of prion protein glycosylation in replication of human prions by protein misfolding cyclic amplification. (academictree.org)
Present1
The present study showed that in subjects with MCI, platelet tPLA 2 activity correlates with patients' cognitive conditions, and that CS acts selectively on the enzyme, i.e., it modulates the parameter only in individuals with deregulated values in comparison to the healthy elderly. (pharmaceuticalintelligence.com)
Healthy2
To date, only one study has been performed in humans: in a little cohort of healthy elderly subjects, a memory training intervention was proved to modulate platelet PLA 2 activity [ 8 ]. (pharmaceuticalintelligence.com)
26) and significantly higher tPLA 2 activity, and individuals cognitively more preserved (MMSE score ≥26), who had tPLA 2 activity similar to the healthy elderly. (pharmaceuticalintelligence.com)
Scientific1
Feature papers are submitted upon individual invitation or recommendation by the scientific editors and must receive positive feedback from the reviewers. (mdpi.com)
Body1
ANALYSIS: Multivariate logistic regression models were used to estimate associations between measures of sleep and body mass index weight category adjusting for individual, household and neighborhood characteristics. (cdc.gov)
Controls1
Using the assay, a significant 3- to 5-fold increase in Aβ oligomers in human AD CSF compared with comparably aged controls was demonstrated. (jneurosci.org)