基因亚型
载脂蛋白E
等位基因
生物
遗传学
基因座(遗传学)
载脂蛋白B
阿尔茨海默病
脂蛋白
疾病
基因
内分泌学
内科学
胆固醇
医学
作者
Robert W. Mahley,S C Rall
出处
期刊:Annual Review of Genomics and Human Genetics
[Annual Reviews]
日期:2000-09-01
卷期号:1 (1): 507-537
被引量:1538
标识
DOI:10.1146/annurev.genom.1.1.507
摘要
First recognized as a major determinant in lipoprotein metabolism and cardiovascular disease, apolipoprotein (apo) E has emerged as an important molecule in several biological processes not directly related to its lipid transport function, including Alzheimer's disease and cognitive function, immunoregulation, and possibly even infectious diseases. ApoE is a polymorphic protein arising from three alleles at a single gene locus. The three major isoforms, apoE4, apoE3, and apoE2, differ from one another only by single amino acid substitutions, yet these changes have profound functional consequences at both the cellular and molecular levels. ApoE3 seems to be the normal isoform in all known functions, while apoE4 and apoE2 can each be dysfunctional. Isoform (allele)-specific effects include the association of apoE2 with the genetic disorder type III hyperlipoproteinemia and with both increased and decreased risk for atherosclerosis and the association of apoE4 with increased risk for both atherosclerosis and Alzheimer's disease, impaired cognitive function, and reduced neurite outgrowth; isoform-specific differences in cellular signaling events may also exist. Functional differences in the apoE isoforms that affect (or did affect) survival before the reproductive years probably account, at least in part, for the allele frequencies of the present day.
科研通智能强力驱动
Strongly Powered by AbleSci AI