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Science 11 July 1997:
Vol. 277. no. 5323, pp. 228 - 231
DOI: 10.1126/science.277.5323.228
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Reports

Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

Eugene D. Carstea, * Jill A. Morris, * Katherine G. Coleman, Stacie K. Loftus, Dana Zhang, Christiano Cummings, Jessie Gu, Melissa A. Rosenfeld, William J. Pavan, David B. Krizman, James Nagle, Mihail H. Polymeropoulos, Stephen L. Sturley, Yiannis A. Ioannou, Maureen E. Higgins, Marcella Comly, Adele Cooney, Anthony Brown, Christine R. Kaneski, E. Joan Blanchette-Mackie, Nancy K. Dwyer, Edward B. Neufeld, Ta-Yuan Chang, Laura Liscum, Jerome F. Strauss III, Kousaku Ohno, Marsha Zeigler, Rivka Carmi, Jacob Sokol, David Markie, Raymond R. O'Neill, O. P. van Diggelen, Milan Elleder, Marc C. Patterson, Roscoe O. Brady, Marie T. Vanier, Peter G. Pentchev, dagger Danilo A. Tagle

Niemann-Pick type C (NP-C) disease, a fatal neurovisceral disorder, is characterized by lysosomal accumulation of low density lipoprotein (LDL)-derived cholesterol. By positional cloning methods, a gene (NPC1) with insertion, deletion, and missense mutations has been identified in NP-C patients. Transfection of NP-C fibroblasts with wild-type NPC1 cDNA resulted in correction of their excessive lysosomal storage of LDL cholesterol, thereby defining the critical role of NPC1 in regulation of intracellular cholesterol trafficking. The 1278-amino acid NPC1 protein has sequence similarity to the morphogen receptor PATCHED and the putative sterol-sensing regions of SREBP cleavage-activating protein (SCAP) and 3-hydroxy-3-methyl-glutaryl coenzyme A (HMG-CoA) reductase.

E. D. Carstea, J. A. Morris, K. G. Coleman, D. Zhang, C. Cummings, J. Nagle, M. Comly, A. Cooney, A. Brown, C. R. Kaneski, R. R. O'Neill, R. O. Brady, P. G. Pentchev, National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH), Bethesda, MD 20892, USA.
S. K. Loftus, J. Gu, M. A. Rosenfeld, W. J. Pavan, M. H. Polymeropoulos, D. A. Tagle, National Human Genome Research Institute, NIH, Bethesda, MD 20892, USA.
D. B. Krizman, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
S. L. Sturley, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
Y. A. Ioannou and M. E. Higgins, Mount Sinai School of Medicine, New York, NY 10029, USA.
E. J. Blanchette-Mackie, N. K. Dwyer, E. B. Neufeld, National Institute of Diabetes and Digestive and Kidney Diseases, NIH, Bethesda, MD 20892, USA.
T.-Y. Chang, Dartmouth Medical School, Hanover, NH 03755, USA.
L. Liscum, Tufts University School of Medicine, Boston, MA 02111, USA.
J. F. Strauss III, University of Pennsylvania, Philadelphia, PA 19104, USA.
K. Ohno, Tottori University Faculty of Medicine, Yanago, Japan.
M. Zeigler, Hadassah University Hospital, Jerusalem, Israel.
R. Carmi, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
J. Sokol, Hillel Yaffe Medical Center, Hadera, Israel.
D. Markie, Dunedin School of Medicine, Dunedin, New Zealand.
O. P. van Diggelen, Erasmus University, Rotterdam, The Netherlands.
M. Elleder, Faculty of Medicine and University Hospital, Prague, Czech Republic.
M. C. Patterson, Mayo Clinic, Rochester, MN 55905, USA.
M. T. Vanier, INSERM U 189, Oullins, France.
*   These authors contributed equally to this study.

dagger    To whom correspondence should be addressed. E-mail: pentchev{at}codon.nih.gov

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