Potential gene therapy for lecithin-cholesterol acyltransferase (LCAT)-deficient and hypoalphalipoproteinemic patients with adenovirus-mediated transfer of human LCAT gene

Circulation. 1996 Nov 1;94(9):2177-84. doi: 10.1161/01.cir.94.9.2177.

Abstract

Background: Overexpression of human lecithin-cholesterol acyltransferase (LCAT) in transgenic mice results in an increase of the antiatherogenic HDLs.

Methods and results: To investigate the potential use of LCAT for gene therapy, a recombinant adenovirus was constructed in which the human LCAT cDNA was expressed under the control of the human cytomegalovirus immediate/early promoter followed by a chimeric intron (AdCMV human LCAT). Human apolipoprotein (apo) A-I transgenic mice infected with AdCMV human LCAT by intravenous injection accumulated reactive LCAT in the plasma. LCAT activity was increased 201-fold in the plasma of mice infected with 1 x 10(6) pfu AdCMV human LCAT, from 45 +/- 2 to 9068 +/- 812 nmol.mL-1.h-1, in comparison with basal LCAT activity measured in control mice, 5 days after injection. Plasma HDL cholesterol levels rose from 117 +/- 12 to 797 +/- 48 mg/dL, and plasma human apo A-I concentrations increased from 247 +/- 14 to 616 +/- 17 mg/dL, in AdCMV human LCAT infected mice compared with control mice. HDL particles were larger and had a different electrophoretic mobility. Studies of cholesterol efflux by incubation of serum with cholesterol-loaded Fu5AH cells showed that serum from AdCMV human LCAT-infected mice promoted a significantly higher efflux than did that of the controls.

Conclusions: These data establish the potential of this approach for treatment of subjects with LCAT gene defects as well as patients with low plasma levels of apo A-I and HDL cholesterol.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenoviridae*
  • Animals
  • Apolipoprotein A-I / blood
  • Apolipoprotein A-I / genetics
  • Carcinoma, Hepatocellular
  • Cholesterol Esters / blood
  • Cholesterol, HDL / blood
  • Electrophoresis
  • Fatty Acids / analysis
  • Gene Expression / physiology
  • Gene Transfer Techniques*
  • Genetic Therapy*
  • Humans
  • Lipoproteins / blood
  • Male
  • Mice
  • Mice, Transgenic
  • Molecular Weight
  • Mutation / genetics
  • Phosphatidylcholine-Sterol O-Acyltransferase / genetics*
  • Phospholipids / blood
  • Phospholipids / chemistry
  • Tangier Disease / genetics*
  • Triglycerides / blood
  • Tumor Cells, Cultured / metabolism

Substances

  • Apolipoprotein A-I
  • Cholesterol Esters
  • Cholesterol, HDL
  • Fatty Acids
  • Lipoproteins
  • Phospholipids
  • Triglycerides
  • Phosphatidylcholine-Sterol O-Acyltransferase