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Case report: A novel apolipoprotein A-I missense mutation apoA-I (Arg149Ser)Boston associated with decreased lecithin-cholesterol acyltransferase activation and cellular cholesterol efflux.

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.
AuthorsPimjai Anthanont, Bela F Asztalos, Eliana Polisecki, Benoy Zachariah, Ernst J Schaefer
JournalJournal of clinical lipidology (J Clin Lipidol) 2015 May-Jun Vol. 9 Issue 3 Pg. 390-5 ISSN: 1933-2874 [Print] United States
PMID26073399 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, U.S. Gov't, Non-P.H.S.)
CopyrightCopyright © 2015 National Lipid Association. Published by Elsevier Inc. All rights reserved.
Chemical References
  • Apolipoprotein A-I
  • Cholesterol
  • Phosphatidylcholine-Sterol O-Acyltransferase
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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