Sandbox Reserved 595: Difference between revisions
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=Background= | =Background= | ||
Apolipoprotein E is a member of the apolipoprotein family (NMR structure [[217b]]). This soluble protein is produced primarily in the liver and brain; and it is located principally in the plasma and in the central nervous system (CNS)'<ref>Han X. 2010. | Apolipoprotein E is a member of the apolipoprotein family (NMR structure [[217b]]). This soluble protein is produced primarily in the liver and brain; and it is located principally in the plasma and in the central nervous system (CNS)'<ref>Han X. 2010. The pathogenic implication of abnormal interaction between apolipoprotein E isoforms, amyloid-beta peptides, and sulfatides in Alzheimer's disease. Mol Neurobiol 41(2-3): 97-106.</ref>'. The systemic transport of cholesterol and other lipids is this protein's main role in the body '<ref>OMIM.Omim.org/entry/107741.</ref>'. One minor function it exhibits is that of immune regulation '<ref>OMIM.Omim.org/entry/107741.</ref>'. ApoE also plays a role in synaptic integrity and plasticity '<ref>Arold, S. et al. 2012. Apolipoprotein E level and cholesterol are associated with reduced synaptic amyloid beta in Alzheimer's disease and apoE TR mouse cortex. Acta Neuropathol 123(1):39-52.</ref>'. Particular isoforms, ε2 and ε4 are implicated in hyperlipoproteinemia (HLP III) and late onset Alzheimer's disease (LOAD). | ||
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=Genetics= | =Genetics= | ||
The ApoE gene stores the information responsible for the protein apolipoprotein E. ApoE's cytogenic location is on the long q arm of chromosome 19, in the 13.2 position (19q13.2). It stretches from base pair 45,409,038 to bp 45,412,649 '<ref>Genetics Home Reference. 2013. APOE gene. Ghr.hlm.nih.gov/gene/APOE.</ref>'. Polymorphisms for this gene include three main alleles, epsilon 2, epsilon 3, and epsilon 4 '<ref>OMIM.Omim.org/entry/107741.</ref>'. The ε3 allele is the most frequent in all human groups. ε4 has a higher frequency in populations such as Pygmies and Khoisan, Aboriginies of Malaysia and Australia, Papuas, some Native Americans, and Lapps. The frequency of ε2 fluctuates without an apparent trend; but, it is | The ApoE gene stores the information responsible for the protein apolipoprotein E. ApoE's cytogenic location is on the long q arm of chromosome 19, in the 13.2 position (19q13.2). It stretches from base pair 45,409,038 to bp 45,412,649 '<ref>Genetics Home Reference. 2013. APOE gene. Ghr.hlm.nih.gov/gene/APOE.</ref>'. Polymorphisms for this gene include three main alleles, epsilon 2, epsilon 3, and epsilon 4 '<ref>OMIM.Omim.org/entry/107741.</ref>'. The ε3 allele is the most frequent in all human groups. ε4 has a higher frequency in populations such as Pygmies and Khoisan, Aboriginies of Malaysia and Australia, Papuas, some Native Americans, and Lapps. The frequency of ε2 fluctuates without an apparent trend; but, it is abcent in Native American populations '<ref>OMIM.Omim.org/entry/107741.</ref>'. | ||
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