Functional mutation in ABCA1, plasma levels of apolipoprotein E and risk of alzheimer disease and cerebrovascular disease

Aim and background: The ATP Binding Cassette Transporter A1 (ABCA1) is a major cholesterol transporter highly expressed in liver and brain. In brain, ABCA1 lipidates apolipoprotein E (apoE) and thus facilitates clearance of β-amyloid and maintenance of the blood-brain-barrier via apoE mediated pathways. Whether functional mutations in ABCA1 are associated with decreased levels of plasma apoE and increased risk of Alzheimer disease and cerebrovascular disease in the general population is unknown. We tested this hypothesis