Data humans mutations individuals apolipoprotein e4. Medical search. Frequent questions

Research has also discovered the association of a fourth allele, apolipoprotein E4 (ApoE4), in the development of late-onset and sporadic forms of the disease, although the pathology of its role is still largely unknown. (wikipedia.org)
SNPs with minor allele frequency (MAF) of greater than 1%, accounting for over 90% of genetic variation between individuals. (biomedcentral.com)
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)
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)

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)
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)
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)

Current research on the amyloid cascade hypothesis has identified rare mutations in three genes that encode the amyloid precursor protein (APP), presenilin 1 (PS-1), and presenilin 2 (PS-2) that cause the autosomal dominant, early-onset form of familial Alzheimer's disease. (wikipedia.org)
Mutations in ten different genes have been found to contribute to a heritable increased risk of breast cancer and other cancer syndromes. (wikipedia.org)
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)
METHOD: Mutation screening of positional candidate genes was performed in two stages. (neurotransmitter.net)
AD can be caused by mutations in genes involved in the processing of Aβ, including APP , PSEN1 , and PSEN2 [ 5 ]. (nature.com)
Recently it has been shown that individual genetic polymorphisms in the genes encoding inflammatory cytokines, apolipoprotein E4 and lipoprotein lipase and the like have a major impact on the magnitude of SIRS in patients undergoing CPB (2-4). (peertechzpublications.com)

Furthermore, the most common genetic risk factor for AD, apolipoprotein E4 ( APOE4 ), is associated with increased frequency of TDP-43 pathology. (biomedcentral.com)

This subtype is due to a mutation in the APP gene (21q21.2), encoding the beta-amyloid precursor protein. (findzebra.com)
All recognized mutations for AD are associated with increased deposition of amyloid-beta (Abeta), a peptide fragment comprising 39-43 amino acids that derive from the catabolism of the amyloid precursor protein (APP) molecule. (medscape.com)

Marked genetic heterogeneity is correlated to multiple levels of causation in many common human diseases including cystic fibrosis, Alzheimer's disease, autism spectrum disorders, inherited predisposition to breast cancer, and non-syndromic hearing loss. (wikipedia.org)
Comparison of amyloid burden in individuals with Down syndrome versus autosomal dominant Alzheimer's disease: a cross-sectional study. (cdc.gov)
Despite minor differences, amyloid PET changes were similar between people with autosomal dominant Alzheimer's disease versus Down syndrome and strongly supported early amyloid dysregulation in individuals with Down syndrome. (cdc.gov)
Amyloid and tau-PET in early-onset AD: Baseline data from the Longitudinal Early-onset Alzheimer's Disease Study (LEADS) Alzheimers Dement. (usc.edu)
Baseline neuropsychiatric symptoms and psychotropic medication use midway through data collection of the Longitudinal Early-Onset Alzheimer's Disease Study (LEADS) cohort Alzheimers Dement. (usc.edu)
Profiling baseline performance on the Longitudinal Early-Onset Alzheimer's Disease Study (LEADS) cohort near the midpoint of data collection Alzheimers Dement. (usc.edu)
A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. (jamanetwork.com)

Cystic fibrosis is an inherited autosomal recessive genetic disorder that occurs through a mutation in a single gene that codes for the cystic fibrosis transmembrane conductance regulator. (wikipedia.org)
Research has identified over 2,000 cystic fibrosis associated mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator at varying degrees of frequency within the disease carrying population. (wikipedia.org)
Disorders on the Autism spectrum have high levels of genetic heterogeneity and result from multiple genetic pathways including single gene mutation disorders (such as Fragile X Syndrome), regional and submicroscopic variations in the number of gene copies (either heritable or de novo), rare and common genetic variants, and chromosomal aberrations. (wikipedia.org)
Biallelic mutations, in which both copies of a particular gene are mutated, in BRCA2, BRIP1, and PALB2 also cause Fanconi anemia, a recessive syndrome that leads to progressive bone marrow failure. (wikipedia.org)
Furthermore, it has been stated that different mutations of this gene results in a loss in the ability of aggregate and the production of an immune response (9). (peertechzpublications.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)
2005) identified a mutation in the APP gene (104760.0019). (findzebra.com)

These data add to limited literature comparing wheat whole grains to wheat refined grains on CVD risk and highlight the need to consider genetic variation in relation to lipoprotein lipid content and CVD risk. (biomedcentral.com)
Intravenous injection of apolipoprotein A-V reconstituted high-density lipoprotein decreases hypertriglyceridemia in apoav-/- mice and requires glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1. (omicsdi.org)
To investigate whether hypertriglyceridemia subtypes affect acute pancreatitis progression, we analyzed two genetically modified hypertriglyceridemia mouse models-namely, glycosylphosphatidylinositol high-density lipoprotein binding protein 1 knockout (Gpihbp1-/-) and apolipoprotein C3 transgenic (ApoC3-tg) mice. (omicsdi.org)

These mutations also produce varying degrees of disease phenotypes, and may also work in combinations to produce additive phenotypic effects. (wikipedia.org)

We characterized a human ?Syn transgenic mouse model and tested the hypothesis that the mitochondrial permeability transition pore (mPTP) is involved in the disease mechanisms. (omicsdi.org)
To investigate how the expression of tau affects α-syn-induced neurodegeneration in vivo, we generated triple transgenic mice that overexpressed α-syn A53T mutation in the midbrain dopaminergic neurons (mDANs) with different expression levels of tau. (omicsdi.org)

Initial research on genetic heterogeneity was conducted using genetic linkage analyses, which map genetic loci of related individuals to identify genomic differences. (wikipedia.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)

However, these changes are superimposed in individuals with reduced brain volume, especially in the hippocampus, and other developmental abnormalities, such as reduced dendritic arborizations, decreased number of spines, spine atrophy, and abnormalities of spine orientation in pyramidal neurons. (medscape.com)

2003) reviewed the pathology and genetics of APP -related CAA and discussed the different neuropathologic consequences of different APP mutations. (findzebra.com)
American Journal of Human Genetics. (psu.edu)

We finally make recommendations regarding planning and reporting of data relating to vascular assessment techniques, particularly when genomic data are also available, to facilitate integration of these tools into cardiovascular disease research. (biomedcentral.com)
Deep phenotyping and genomic data from a nationally representative study on dementia in India Sci Data. (usc.edu)

Mice were acclimated in the chambers for 48 hr prior to data collection. (wee1signals.com)
C57BL/6 mice expressing human A53T-mutant ?Syn driven by a thymic antigen-1 promoter develop a severe, age-related, fatal movement disorder involving ataxia, rigidity, and postural instability. (omicsdi.org)

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)

Human APP mRNA was detected in neurons and neuronal processes, but not in vessel walls. (findzebra.com)

Therefore, potentially, this phenotype could be harnessed to identify individuals at risk and start treatments before degeneration progresses too far. (nature.com)

and astrogliosis and neuroinflammation, with greater degrees of abnormality in individuals with dementia. (cdc.gov)
Moreover, DM has been suggested to be an individual risk factor for dementia [ 7 , 8 ], independent of other established risk factors, such as hypertension and atherosclerosis [ 8 , 9 ]. (hindawi.com)
[ 5 ] In 1948, G.A Jervis reported the dementia course and neuropathological changes in DS were similar to AD in individuals without DS. (medscape.com)
Individuals with DS or trisomy 21 develop a clinical syndrome of dementia with clinical and neuropathologic characteristics almost identical to those of AD as described in individuals without DS. (medscape.com)
One study compared the clinical findings in individuals with DS and dementia with those with dementia and intellectual disabilities. (medscape.com)

The increase was seen in three separate human cohorts, totaling 63 AD and 54 controls. (jneurosci.org)
However, most of this data is from MRI or PET studies of small cohorts, and none had pre-COVID data from which to draw. (alzforum.org)

Its intravenous administration may have therapeutic benefit in human subjects with severe HTG, especially in cases involving apoA-V variants associated with HTG. (omicsdi.org)

In the absence of head-to-head evidence, overall survival and progression-free survival for ipilimumab were estimated on the basis of an indirect comparison using published data. (edu.au)
Biomarkers are required to identify individuals in the preclinical phase, explain phenotypic diversity, measure progression and estimate prognosis. (lu.se)

Individual prognosis is difficult due to variations in the duration of the disease, which may develop latently over a long time before the symptoms become noticeable and the diagnosis is made. (antidepressant-meds.com)
There are no validated tests that can identify early in the disease process which individuals will develop hypertension-mediated organ damage. (biomedcentral.com)
Identification of individuals with risk factors for the development of severe alcoholic hepatitis may provide insight to the diverse clinical spectrum and prognosis of the disease. (wjgnet.com)
Although Alzheimer disease (AD) is more frequent in individuals with Down syndrome (DS), the main contributing factor is unknown. (medscape.com)

With U.K. Biobank data, scientists compared brains pre- and post-COVID. (alzforum.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)

In a previous study of apolipoprotein (apo)E4-containing reconstituted HDL (rHDL) particles, we optimized the NS method in a way that eliminated rouleaux. (omicsdi.org)
Study data for CMS approved prospective comparative studies may be collected in a registry. (cms.gov)
The study is sponsored by an organization or individual capable of completing it successfully. (cms.gov)
The research study is in compliance with all applicable Federal regulations concerning the protection of human subjects found in the Code of Federal Regulations (CFR) at 45 CFR Part 46. (cms.gov)
In addition, to further enhance the protection of human subjects in studies conducted under CED, the study must provide and obtain meaningful informed consent from patients regarding the risks associated with the study items and/or services, and the use and eventual disposition of the collected data. (cms.gov)

data were lacking for peripheral artery tonometry. (biomedcentral.com)

Individuals with Down syndrome aged at least 35 years might benefit from early intervention and warrant future inclusion in clinical trials, particularly given the relatively high incidence of Down syndrome. (cdc.gov)

In all, 35/31 individuals in Cohort 1 and 46/36 in Cohort 2 fulfilled criteria for AD/non-AD profile CSF, respectively. (lu.se)

CRICIT and similar systems have the potential to streamline research activities and contribute to the efficient collection and utilization of clinical research data. (bvsalud.org)
Network Connectivity Alterations across the MAPT Mutation Clinical Spectrum Ann Neurol. (usc.edu)
The text and data from 1989-1990 survey has been digitized and provided to the public with thanks to the Clinical Trial Service Unit and Epidemiological Studies Unit at the University of Oxford in England. (nutritionstudies.org)
Clinical differences have been observed, mainly in the early age of onset of AD in individuals with DS. (medscape.com)

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)
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)

Apolipoprotein A-V (apoA-V), a minor protein associated with lipoproteins, has a major effect on triacylglycerol (TG) metabolism. (omicsdi.org)

Introduction: Choosing an appropriate electronic data capture system (EDC) is a critical decision for all randomized controlled trials (RCT). (bvsalud.org)

Site-specific mutations in the heparin-binding region of apoA-V (amino acids 186 to 227) attenuated apoA-V rHDL TG-lowering activity by 50%, suggesting that this sequence element is required for optimal TG-lowering activity in vivo. (omicsdi.org)

Second, Medicine 3.0 considers the patient as a unique individual. (sameerbajaj.com)

It is hypothesised that high risk for cancer human papillomaviruses (HPVs) have a causal role in prostate cancer. (biomedcentral.com)

Mutations in p53 and PTEN increase risks of breast cancer associated with rare cancer syndromes. (wikipedia.org)

Mutations in BRCA1 and BRCA2 result in a high risk of both breast and ovarian cancers. (wikipedia.org)

Data collected between April and October 2020 (N=1046) were analyzed and compared with the UK ISARIC4C survey of hospitalized COVID-19 patients with and without DS. (cdc.gov)
The authors view their work as a proof of concept that whole-genome sequencing can yield clinically useful information for individual patients. (blogspot.com)

studies, data based on both prostate tissues and serum were combined. (biomedcentral.com)

These pathogens include human papillomaviruses, Epstein Barr virus and commonly Propionibacterium acnes . (biomedcentral.com)

A comparison of neuroelectrophysiology databases Sci Data. (usc.edu)

Normal human prostate epithelial cells can be immortalised by experimental exposure to HPVs. (biomedcentral.com)

Anatomy15

Organisms9

Diseases29

Chemicals and Drugs91

Analytical, Diagnostic and Therapeutic Techniques and Equipment40

Psychiatry and Psychology5

Phenomena and Processes68

Disciplines and Occupations1

Technology, Industry, Agriculture1

Information Science3

Named Groups1

Health Care9

Allele6

APOE11

Genes7

ApoE41

Amyloid precurs2

Alzheimer's7

Gene8

Lipoprotein3

Phenotypes1

Transgenic2

Genetic3

Atrophy1

Genetics2

Genomic data2

Mice2

Neurodegenerative1

Neurons1

Degeneration1

Dementia5

Cohorts2

Variants1

Progression2

Disease4

Brains1

Association1

Study5

Peripheral1

Syndrome1

Cohort1

Clinical4

Brain2

Major1

Introduction1

Region1

Patient1

Role1

Cancer1

Result1

Patients2

Studies1

Include1

Comparison1

Normal1