Increased Plasma Apolipoprotein E-Rich High-Density Lipoprotein and Its Effect on Serum High-Density Lipoprotein Cholesterol Determination in Patients with Familial Hyperalphalipoproteinemia Due to Cholesteryl Ester Transfer Activity Deficiency |
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| Affiliation: | 1. Department of Ophthalmology and Visual Sciences, the Chinese University of Hong Kong, Hong Kong Special Administrative Region, China;2. Department of Computer Science and Engineering, the Chinese University of Hong Kong, Hong Kong Special Administrative Region, China;3. Gerald Choa Neuroscience Institute, Therese Pei Fong Chow Research Centre for Prevention of Dementia, Lui Che Woo Institute of Innovative Medicine, Division of Neurology, Department of Medicine and Therapeutics, the Chinese University of Hong Kong, Hong Kong Special Administrative Region, China;4. Jockey Club Centre for Osteoporosis Care and Control, the Chinese University of Hong Kong, Hong Kong Special Administrative Region, China;5. Department of Medicine and Therapeutics, Faculty of Medicine, the Chinese University of Hong Kong, Hong Kong Special Administrative Region, China;6. Department of Ophthalmology and Visual Sciences, Prince of Wales Hospital, Hong Kong Special Administrative Region, China;7. Memory Aging &Cognition Centre, National University Health System, Singapore;8. Department of Pharmacology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore;9. Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore;10. Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore;11. Raffles Neuroscience Centre, Raffles Hospital, Singapore, Singapore;12. Singapore Eye Research Institute, Singapore National Eye Centre, Singapore;13. Ophthalmology and Visual Sciences Academic Clinical Program, Duke-National University of Singapore Medical School, Singapore;14. Singapore Eye Research Institute, Advanced Ocular Engineering and School of Chemical and Biomedical Engineering, Nanyang Technological University, Singapore;15. Centre for Public Health, Royal Victoria Hospital, Queen''s University Belfast, Belfast, UK;p. Centre for Medical Education, Queen''s University Belfast, Belfast, UK;q. Department of Ophthalmology and Department of Neurology, Mayo Clinic, Rochester, MN, USA;r. Department of Neurology and Department of Ophthalmology, Division of Cerebrovascular Diseases, Mayo Clinic College of Medicine and Science, Scottsdale, AZ, USA;s. Tsinghua Medicine, Tsinghua University, Beijing, China;1. Genetics and Aging Research Unit, McCance Center for Brain Health, Mass General Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA 02129, USA;2. Institute of Biochemistry, Department of Biology, ETH Zürich, 8093 Zürich, Switzerland;3. Department of Molecular Biology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA;4. Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital and Harvard Medical School, Charlestown, MA 02129, USA;5. Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA;1. Department of Biomedical Informatics, The Ohio State University, Columbus, OH 43210, USA;2. Department of Neuroscience, The Ohio State University, Columbus, OH 43210, USA;1. Department of Physiology, University of Gour Banga, Mokdumpur, Malda 732103, India;2. Experimental Medicine and Stem Cell Research Laboratory, Department of Physiology, West Bengal State University, Barasat, Kolkata 700126, India;1. Department of Neuroscience and Mahoney Institute for Neurosciences, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA;2. Department of Pediatrics, Division of Neurology, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;3. Key Laboratory of Neuroregeneration of Jiangsu and Ministry of Education, Co-innovation Center of Neuroregeneration, Nantong University, Nantong, Jiangsu 226001, China;4. Neuroscience Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA;5. Division of Neurosurgery, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;6. Department of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA;7. Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA;8. Department of Pathology and Laboratory Medicine, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;9. The Epilepsy NeuroGenetics Initiative (ENGIN), Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;10. Department of Biomedical and Health Informatics (DBHi), Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;11. Lieber Institute for Brain Development, The Solomon H. Snyder Department of Neuroscience, Department of Neurology, and Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA;12. Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA;13. Department of Cell and Developmental Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA;14. Institute for Regenerative Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA;15. The Epigenetics Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA;16. Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA;1. MIT Computer Science and Artificial Intelligence Laboratory, Cambridge, MA, USA;2. Broad Institute of MIT and Harvard, Cambridge, MA, USA;3. Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge, MA, USA;4. Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA, USA;5. Department of Pathology and Laboratory Medicine, Department of Statistics, University of British Columbia, Vancouver, BC, Canada;6. Department of Molecular Oncology, BC Cancer, Vancouver, BC, Canada;7. Department of Neurobiology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA;8. Rush Alzheimer’s Disease Center, Rush University Medical Center, Chicago, IL, USA |
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| Abstract: | Plasma apo E-rich HDL was studied in regard to its quantity and chemical composition in the members of a family with cholesteryl ester transfer activity deficiency, exhibiting familial hyperalphalipoproteinemia. The approach involved a simple precipitation method established in our laboratory. Serum apo E-rich HDL concentrations for two homozygous members were elevated up to 66 and 60 mg/dl in terms of cholesterol (normal, 6.7 ± 2.3 mg/dl, n = 38), and to 9.4 and 10.8 mg/dl in terms of apo E (normal, 2.6 ± 1.5 mg/dl, n = 38). The cholesterol/apo E ratio (mole/mole) of apo E-rich HDL was higher in two homozygotes (669 and 531) than in two cholestatic patients with elevated apo E-rich HDL (268 and 149) and in normal subjects (242 ± 115, n = 38). Chromatographic studies of the serum from a homozygote showed enlargement of all HDL subclasses and apo E in the larger HDL subclass. These facts mndicate that the increase of apo E-rich HDL in this disease occurs secondarily to the enlargement of HDL particles, which require substances to cover their cores, having expanded due to the accumulation of cholesteryl ester. The sera from the homozygotes gave HDL cholesterol concentrations which were remarkably discrepant among commercial precipitating reagents, because of the difference in recovery of apo E-rich HDL with these reagents. |
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