• allele
  • Although ε4 is the ancestral form of the gene, the most common allele in the human population currently is the ε3 allele. (bsu.edu)
  • 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)
  • A notable advantage of the E4 allele (relative to E2 and E3) is a positive association with higher levels of vitamin D, which may help explain its prevalence despite its seeming complicity in various diseases or disorders. (wikipedia.org)
  • Why does the human population carry an allele that increases the risk of Alzheimer's? (blogspot.com)
  • amyloid precurs
  • 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)
  • Askanas V, Engel WK, Alvarez RB (1992) Strong immunoreactivity of β-amyloid precursor protein, including the β-amyloid protein sequence, at human neuromuscular junctions. (springer.com)
  • These transgenic mice express the human amyloid precursor protein bearing the Swedish (K670N/M671L) mutation and develop amyloid deposits in brain tissue by 18-20 months of age. (jax.org)
  • Transgenic mice that are also transgenic for Tg(PSEN1)5Dbo express both human presenilin 1 (A246E variant) and a chimeric amyloid precursor protein (APPSwe) under direction of the mouse prion protein promoter. (jax.org)
  • Alzheimer's
  • 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)
  • E4 has been implicated in atherosclerosis, Alzheimer's disease, impaired cognitive function, reduced hippocampal volume, HIV, faster disease progression in multiple sclerosis, unfavorable outcome after traumatic brain injury, ischemic cerebrovascular disease, sleep apnea, accelerated telomere shortening and reduced neurite outgrowth. (wikipedia.org)
  • Data from genome-wide association studies of more than 200,000 individuals has revealed a genetic overlap between Alzheimer's disease and two significant cardiovascular disease risk factors: high levels of inflammatory C-reactive protein (CRP) and plasma lipids. (memory-key.com)
  • Arriagada PV, MarzloffK, Hyman BT (1992b) Distribution of Alzheimer-type pathologic changes in nondemented elderly individuals matches the pattern in Alzheimer's disease. (springer.com)
  • The human mutations are found in familial Alzheimer's disease. (jax.org)
  • One of them, E4, is associated with increased risk of Alzheimer's. (blogspot.com)
  • gene mutations
  • With modern genomic data, severe gene mutations with less severe effects are being explored to determine whether dietary practices can be more closely personalized to individual genetic profiles. (wikipedia.org)
  • Data on more prevalent gene mutations that diminish HDL-C concentrations and influence risk of CAD at the population level are relatively scanty, although a common mutation in the LPL gene, resulting in a substitution of serine for asparagine at codon 291 and occurring at a frequency of 2% to 4% in white populations, was shown to associate with diminished serum HDL-C levels in two studies. (ahajournals.org)
  • The chimeric APP molecule was created by replacing sequences encoding the Abeta domain of a 695 amino acid isoform of the murine sequence with the cognate sequences of the human gene (mutations K595N, M596L). (jax.org)
  • genes
  • Mutations in ten different genes have been found to contribute to a heritable increased risk of breast cancer and other cancer syndromes. (wikipedia.org)
  • 97% of the genes known to be associated with human diseases result in monogenic diseases, i.e. a mutation in one gene is sufficient to cause the disease. (wikipedia.org)
  • The recent advances in nutrigenomics studies are owed to the completion of human genome project and the new biomics technologies that provide means for the simultaneous determination of the expression of many thousands of genes at the mRNA (transcriptomics), metabolites (metabolomics) and protein (proteomics) levels. (wikipedia.org)
  • A recent genetics paper reports on evidence that changes in six genes involved in human brain development occurred around 50,000 to 200,000 years ago. (memory-key.com)
  • A curated database of candidate human ageing-related genes and genes associated with longevity and/or ageing in model organisms. (senescence.info)
  • Database of human genes associated with cellular senescence. (senescence.info)
  • This gene maps to chromosome 19 in a cluster with the related apolipoprotein C1 and C2 genes. (senescence.info)
  • The candidate lithogenic-genes found in humans are: ABC transporters for phosphatidylcholine (ABCB-4) and bile salts (ABCB-11), hepatocanalicular cholesterol transporter (ABCG5/G8), cholesterol-7α-hydroxylase (CYP7A1), cholecystokinine type-A receptor (CCK1R), cholesteryl ester transfer protein (CETP), and apolipoproteins (Apo) A-I, B and E[ 4 , 5 , 15 - 18 ]. (pubmedcentralcanada.ca)
  • BRCA2
  • 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)
  • isoform
  • The chimeric APP695 molecule was created by replacing sequences encoding the Abeta domain of the murine sequence with the cognate sequences of the human gene and mutations K595N and M596L (APP695 isoform numbering). (jax.org)
  • hyperlipoproteinemia
  • Individuals with an E2/E2 combination may clear dietary fat slowly and be at greater risk for early vascular disease and the genetic disorder type III hyperlipoproteinemia-94.4% of such patients are E2/E2, while only ∼2% of E2/E2 develop the disease, so other environmental and genetic factors are likely to be involved (such as cholesterol in the diet and age). (wikipedia.org)
  • genome project
  • Many of the strides made in genetic diagnostics are direct results of the Human Genome Project, an international thirteen-year effort begun in 1990 by the U.S. Department of Energy and the National Institutes of Health, which mapped and sequenced the human genome in its entirety. (encyclopedia.com)
  • liver
  • Interestingly, a Dutch group simultaneously described an identical gene as apolipoprotein which it is associated with the early phase of liver regeneration, but failed to recognise its important role in the determination of plasma triglyceride levels. (wikipedia.org)
  • Disease
  • and (4) the development of the same common disease in different individuals through different mutations. (wikipedia.org)
  • Research as identified over 2,000 cystic fibrosis associated mutations in the CTFR gene at varying degrees of frequency within the disease carrying population. (wikipedia.org)
  • A good screening test is relatively inexpensive, easy to use and interpret, and helps identify which individuals in the population are at higher risk of developing a specific disease. (encyclopedia.com)
  • SNPs
  • Individuals with methylation pathway SNPs may be more susceptible to deficiencies in CDP-choline because it is difficult for them to make phosphoethanolamine, a CDP-choline precursor. (greatplainslaboratory.com)
  • Within the APOA5 gene, a couple of important SNPs with a widely confirmed effect on plasma TG levels as well as rare mutations have been described. (wikipedia.org)
  • common
  • A given individual's LDL phenotype shows 40-75% heritability, with phenotype B more common in older individuals and males, with adiposity, insulin resistance, and dietary factors as additional determinants. (diabetesjournals.org)
  • The Department of Molecular and Human Genetics at Baylor College of Medicine [ 5 ] and some of these providers offer testing focused on less common mutations that establish a diagnosis of a single gene disorder. (biomedcentral.com)
  • murine
  • Four major antibody types that have been developed are murine, chimeric, humanised and human. (wikipedia.org)
  • However the dissimilarity between murine and human immune systems led to the clinical failure of these antibodies, except in some specific circumstances. (wikipedia.org)
  • levels
  • This diet changes lipid levels in individuals with phenotype A by reducing cholesterol content of LDL particles, without reducing particle number, while individuals with phenotype B show reduced conversion of VLDL2 to LDL2 with increased levels of large VLDL particles, resulting in greater numbers of remnant particles ( 4 ). (diabetesjournals.org)
  • plasma
  • Large and medium LDL comprise the most abundant species in plasma of the most healthy individuals, but there are two forms of small LDL, exhibiting reduced receptor binding, greater endothelial transport, greater arterial proteoglycan binding, and greater susceptibility to oxidation. (diabetesjournals.org)
  • data
  • Species specific: extremely low recognition of human Apo E. No data available regarding rat activity. (mybiosource.com)
  • brain
  • 2015. Decreases in Short Term Memory, IQ, and Altered Brain Metabolic Ratios in Urban Apolipoprotein ε4 Children Exposed to Air Pollution. (memory-key.com)
  • Transgene expression was observed in the brain and heart by Western blot analysis using a monoclonal antibody recognizing the human Abeta region. (jax.org)
  • The vaccine AN-1792 showed promise in mouse and early human trials, but in a 2002 Phase II trial, 6% of subjects (18 of 300) developed serious brain inflammation resembling meningoencephalitis, and the trial was stopped. (wikipedia.org)
  • people
  • For example, people with an enzyme deficiency caused by mutations in the enzyme phenylalanine hydroxylase cannot metabolize foods containing the amino acid phenylalanine and must modify their diets to minimize consumption. (wikipedia.org)
  • open
  • 42 of these studies were open, human phase three trials, the last step before United States Food and Drug Administration (FDA) approval and marketing. (wikipedia.org)