ABCMdb

PMID: 20188211

Koldamova R, Fitz NF, Lefterov I
The role of ATP-binding cassette transporter A1 in Alzheimer's disease and neurodegeneration.
Biochim Biophys Acta. 2010 Aug;1801(8):824-30. Epub 2010 Feb 24., [PubMed]

Sentences

No. Mutations Sentence Comment

55 ABCA1 p.Ile883Met ABCA1 p.Arg219Lys In almost all of the reports R219K (rs2230806), I883M (rs4149313), and R1587K (rs2230808) variants are the most extensively investigated since they give rise to amino acid changes, are common in the European population and are closely associated with the risk for CAD. Login to comment 56 ABCA1 p.Arg219Lys The association of R219K is the most controversial. Login to comment 65 ABCA1 p.Arg219Lys Importantly, the additional analysis of AD patients included in the study for association of those two markers with AD-related quantitative traits showed a significant effect of the R219K variant on CSF Aβ42 levels, whereby RK heterozygotes had the highest trait levels. Login to comment 93 ABCA1 p.Asn935Ser N935S mutation was identified in patient with extremely low levels of HDL, but without accelerated development of premature atherosclerosis and with signs of severe dementia and amyloid depositions in the brain at age of 60 [35]. Login to comment 95 ABCA1 p.Asp1099Tyr ABCA1 p.Phe2009Ser The second example is a compound heterozygous mutation (D1099Y and F2009S) identified in a subject with severe HDL cholesterol deficiency [16]. Login to comment