a novel apoa-i truncation (apoa-imytilene) associated with decreased apoa-i production：一种新型apoa-1截断（apoa imytilene）减少apoa-i生产相关.pdf

Atherosclerosis 235 (2014) 470e476 Contents lists available at ScienceDirect Atherosclerosis journal homepage: www.elsevier.c om/locate/atherosclerosis A novel ApoA-I truncation (ApoA-IMytilene) associated with decreased ApoA-I production Pimjai Anthanont a, Eliana Polisecki b, Bela F. Asztalos a, b, Margaret R. Diffenderfer a, P. Hugh R. Barrett c, John S. Millar d, Jeffrey Billheimer e, Marina Cuchel e, Daniel J. Rader e, Ernst J. Schaefer a, b, * a Cardiovascular Nutrition Laboratory, Jean Mayer USDA Human Nutrition Research Center on Aging at Tufts University, 711 Washington Street, Boston, MA 02111, USA b Boston Heart Diagnostics, Framingham, MA 01702, USA c Metabolic Research Center, School of Medicine Pharmacology and Faculty of Engineering, Computing and Mathematics, University of Western Australia, Perth, Australia d Department of Medicine, Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA e Department of Medicine, Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA a r t i c l e i n f o a b s t r a c t Article history: Objective: We report a novel apolipoprotein (apo) A-I truncation (apoA-IMytilene) due to a heterozygous Received 10 March 2014 nonsense mutation (c.718C T, p.Gln216*) in a 68-year-old male proband with premature coronary heart Received in revised form disease (CHD), corneal arcus, and very low plasma concentrations of HDL cholesterol (HDL-C) and apoA-I. 16 Ma