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Correspondence to:
Jessie Z. Gu
Tangier disease (TD) is an autosomal co-dominant disorder in which homozygotes have a marked deficiency of high density lipoprotein (HDL) cholesterol and, in some cases, peripheral neuropathy and premature coronary heart disease (CHD). Homozygotes are further characterized by cholesteryl ester deposition in various tissues throughout the body, most notably in those of the reticuloendothelial system. Several studies have demonstrated that the excess lipid deposition in TD is due to defective apolipoprotein-mediated efflux of cellular cholesterol and phospholipids. Although much progress has been made in our understanding of the metabolic basis of TD, the precise molecular defect had remained elusive until very recently. By positional cloning methods, we: 1) confirm the assignment of TD to chromosome 9q31, 2) provide evidence that human ATP-binding cassette-1 (hABC-1) maps to a 250 kb region on 9q31, and 3) describe novel deletion, insertion, and missense mutations in the gene encoding hABC-1 in four unrelated TD kindreds.
These results establish a causal role for mutations in hABC-1 in TD and indicate that this transporter has a critical function in the regulation of intracellular lipid trafficking that dramatically affects plasma HDL cholesterol levels.—Brousseau, M. E., E. J. Schaefer, J. Dupuis, B. Eustace, P. Van Eerdewegh, A. L. Goldkamp, L. M. Thurston, M. G. FitzGerald, D. Yasek-McKenna, G. O'Neill, G. P. Eberhart, B. Weiffenbach, J. M. Ordovas, M. W. Freeman, R. H. Brown, Jr., and J. Z. Gu. Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds. J. Lipid Res. 2000. 41: 433;–441.
Supplementary key words:
ATP-binding cassette, apolipoprotein, cholesterol, high density lipoprotein, Tangier disease
Copyright © 2000 by Lipid Research, Inc.
Original Article
Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds
Margaret E. Brousseaua,
Ernst J. Schaefera,
Josee Dupuisb,
Brenda Eustaceb,
Paul Van Eerdeweghb,d,
Allison L. Goldkampa,
Lisa M. Thurstonb,
Michael G. FitzGeraldc,
Diane Yasek-McKennae,
Gilmore O'Neille,
Gretchen P. Eberhartf,
Barbara Weiffenbachb,
Jose M. Ordovasa,
Mason W. Freemanf,
Robert H. Brown, Jr.e, and
Jessie Z. Gub
a Lipid Metabolism Laboratory, JM-USDA Human Nutrition Research Center on Aging at Tufts University and Department of Medicine, New England Medical Center, Boston, MA 02111
b Human Genetics, Genome Therapeutics Corporation, Waltham, MA
c Genomics Departments, Genome Therapeutics Corporation, Waltham, MA
d Department of Psychiatry, Harvard Medical School, Cambridge, MA
e Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown, MA
f Lipid Metabolism Unit, Massachusetts General Hospital, Boston, MA
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