Abstract |
We report a novel heterozygous apolipoprotein A-I ( apoA-I) missense mutation (c.517C>A, p.Arg149Ser, designated as apoA-IBoston) in a 67-year-old woman and her 2 sons, who had mean serum high-density lipoprotein ( HDL) cholesterol, apoA-I, and apoA-I in very large α-1 HDL that were 10%, 35%, and 16% of normal, respectively (all P < .05). The percentage of HDL cholesterol in the esterified form was also significantly (P < .05) reduced to 52% of control values. Cholesteryl ester tranfer protein (CETP) activity was normal. The mean global, adenosine triphosphate ( ATP)-binding cassette transporter A1 and scavenger receptor B type I-mediated cellular cholesterol efflux capacity in apoB-depleted serum from affected family members were 41%, 37%, 47%, 54%, and 48% of control values, respectively (all P < .05). lecithin-cholesterol acyltransferase (LCAT) activity in plasma was 71% of controls, whereas in the cell-based assay, it was 73% of control values (P < .05). The data indicate that this novel apoA-I missense is associated with markedly decreased levels of HDL cholesterol and very large α-1 HDL, as well as decreased serum cellular cholesterol efflux and LCAT activity, but not with premature coronary heart disease, similar to other apoA-I mutations that have been associated with decreased LCAT activity.
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Authors | Pimjai Anthanont, Bela F Asztalos, Eliana Polisecki, Benoy Zachariah, Ernst J Schaefer |
Journal | Journal of clinical lipidology
(J Clin Lipidol)
2015 May-Jun
Vol. 9
Issue 3
Pg. 390-5
ISSN: 1933-2874 [Print] United States |
PMID | 26073399
(Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, U.S. Gov't, Non-P.H.S.)
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Copyright | Copyright © 2015 National Lipid Association. Published by Elsevier Inc. All rights reserved. |
Chemical References |
- Apolipoprotein A-I
- Cholesterol
- Phosphatidylcholine-Sterol O-Acyltransferase
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Topics |
- Adult
- Aged
- Amino Acid Substitution
- Apolipoprotein A-I
(genetics, metabolism)
- Cholesterol
(metabolism)
- Enzyme Activation
(genetics)
- Female
- Humans
- Male
- Mutation, Missense
- Phosphatidylcholine-Sterol O-Acyltransferase
(genetics, metabolism)
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