Extractions: Sitosterolemia Research Study If you have homozygous sitosterolemia, you are invited to participate in a study that will evaluate a new investigation drug that inhibits cholesterol absorption. Ezetimibe (SCH-58235) reduces plant sterol concentrations in patients with sitosterolemia with short term treatment. Ezetimibe was well tolerated in these patients. The long term safety and benefit is being evaluated in this one year study. Eligible persons will undergo a comprehensive evaluation. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In most cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel, medical testing or the ezetimibe.
Sitosterolemia sitosterolemia drug treatment. Drugs related to sitosterolemia. ezetimibe (consumerinformation) Vytorin 10/10 Tablets (professional information) http://browse.drugs.com/cond-sitosterolemia.html
Extractions: Verified by National Institutes of Health Clinical Center (CC) December 14, 2004 Sponsored by: National Heart, Lung, and Blood Institute (NHLBI) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose This study will test the safety and effectiveness of 40 mg of ezetimibe (Zetia ) daily in lowering blood levels of cholesterol and of the plant sterols sitosterol and campesterol in patients with homozygous sitosterolemia, an inherited disorder of sterol metabolism. (Sterols are alcohol substances found in animal and plant fats.) In this disorder, an excess of many plant sterols is absorbed and not enough excreted. Patients can develop atherosclerosis and coronary heart disease as early as childhood, as well as other problems including arthritis, arthralgia, and tendon xanthomas (lipid deposits). Current treatment consists of ezetimibe 10 mg, dietary restriction of plant and shellfish sterols, and bile salt binding resins. Ezetimibe is a cholesterol-lowering drug that inhibits intestinal absorption of cholesterol and structurally related plant sterols across the intestinal wall. Patients with homozygous sitosterolemia who are between 18 and 85 years of age have completed NHLBI's 1-year study of ezetimibe at 10 mg a day may be eligible for this study.
Applied Genetics News: Sitosterolemia Genes Discovered Full text of the article, sitosterolemia Genes Discovered from Applied GeneticsNews, a publication in the field of Health Fitness, is provided free of http://www.findarticles.com/p/articles/mi_m0DED/is_5_21/ai_68655482
Extractions: Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it. Tularik, Inc. (Two Corporate Dr., South San Francisco, CA 94080; Tel: 650/825-7000, Fax: 650/825-7303; Website: www.tularik.com) researchers, working in collaboration with scientists from the University of Texas Southwestern Medical Center, have discovered two genes responsible for a rare human genetic disorder called sitosterolemia. Patients with sitosterolemia have excessive absorption and inadequate excretion into the bile, which results in dangerously high cholesterol levels. The discovery of the sitosterolemia genes was reported in the December 1 issue of Science. The newly discovered genes encode two previously unknown protein molecules that are members of the class of ATP-binding cassette (ABC) transporter proteins. The proteins, ABCG5 and ABCG8, bind cholesterol in the liver and small intestine. In the intestines, the proteins block absorption of dietary cholesterol. In the liver, the proteins help excrete cholesterol into bile.
Extractions: Text Size A A A Front Page ... Cholesterol and Other Fats : Sitosterolemia Search For Cholesterol Absorption Genes Narrows To Two Chromosome Regions (December 6, 2002) full story UT Southwestern Researchers Find Gene For Inherited Form Of High Cholesterol (April 30, 2001) full story Scientists Closer To Locating Gene That May Explain Cholesterol Absorption (September 4, 1998) full story [ More news about Sitosterolemia
Extractions: most recent Purchase Article View Shopping Cart Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Wang, J. Articles by Hegele, R. A. Journal of Lipid Research, Vol. 45, 2361-2367, December 2004
Extractions: This Article Full Text (PDF) Purchase Article View Shopping Cart ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Hidaka, H. Articles by Tamura, A. H Hidaka, T Nakamura, T Aoki, H Kojima, Y Nakajima, K Kosugi, I Hatanaka, M Harada, M Kobayashi and A Tamura Third Department of Medicine, Shiga University of Medical Science, Japan. Plasma sterol levels in a family of sitosterolemia and xanthomatosis were determined by a high performance liquid chromatography. Three affected siblings manifested marked xanthomatosis including subcutaneous soft tissues and generalized atherosclerosis. Two other siblings as well as children of the patients did not show such clinical symptoms and signs.
Investigating Cholesterol Scientists identify genes linked to sitosterolemia; study finds influence of sitosterolemia patients have elevated levels of cholesterol in blood and http://www.genomenewsnetwork.org/articles/01_01/Sitosterolemia.shtml
Extractions: January 16, 2001 Two groups of researchers have identified genes that may cause sitosterolemia, an uncommon genetic cholesterol disorder. The disorder is due to defects in cells that distinguish and selectively eliminate different types of dietary cholesterol. Sitosterolemia patients have elevated levels of cholesterol in blood and accumulate plant 'sterols' in tissues, putting them at risk for heart disease at an early age. (The primary plant sterol is sitosterol; hence the name, sitosterolemia.) Shailendra B. Patel, of the Medical University of South Carolina, in Charleston, and colleagues report this month that nine unrelated individuals with sitosterolemia have defects in the gene. Patel's group hypothesizes that the gene is important in the regulation of cholesterol absorption, a process that has long been a mystery in the lipid metabolism field. The findings appear in
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Extractions: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Belamarich, P. F. Articles by Salen, G. PF Belamarich, RJ Deckelbaum, TJ Starc, BE Dobrin, GS Tint and G Salen Dept of Pediatrics, Columbia University College of Physicians and Surgeons, New York, NY 10032. In this report, an 11-year-old boy with diffuse tendinous and tuberous xanthomatosis and a plasma sterol concentration of 555 mg/dL, consisting primarily of cholesterol, is described. Three months after changing from an unrestricted diet to a cholesterol-lowering diet, his plasma sterol concentration decreased to 221 mg/dL. Because of the degree and rapidity of his response to diet, sitosterolemia was suspected. According to results of
Title sitosterolemia is a rare, recessively inherited disease characterized clin.by accelerated atherosclerosis and xanthomas and biochem. by hyperabsorption and http://www.ncl.ac.uk/medplant/about_mprc/My Webs/principals/sitosterols/sitoster
Extractions: Title Macrophage 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in sitosterolemia: effects of increased cellular cholesterol and sitosterol concentrations. Author Nguyen, Lien B.; Salen, Gerald; Shefer, Sarah; Tint, G. Stephen; Ruiz, Frank. Place Department of Medicine, Division of Gastroenterology and Liver Center, New Jersey Medical School, University of Medicine and Dentistry of New Jersey, Newark, NJ, USA. Source Metabolism, Clinical and Experimental CODEN: METAAJ ISSN Journal written in English. Abstract Sitosterolemia is a rare, recessively inherited disease characterized clin. by accelerated atherosclerosis and xanthomas and biochem. by hyperabsorption and retention of sitosterol and other plant sterols in tissues. Decreased cholesterol biosynthesis and inhibition of 3-hydroxy-3-methylgluratyl CoA (HMG-CoA) reductase and other enzymes in the biosynthetic pathway have been assocd. with enhanced low-d. lipoprotein (LDL) receptor function. We examd. the effects of cholesterol and sitosterol on sterol concns. and compn.
SIERE (Sistema De Información Sobre Enfermedades Raras En Español) Translate this page sitosterolemia, Instituto de Salud Carlos III La sitosterolemia, se debe ala presencia de mutaciones en estos genes, dando lugar a una alteración en http://iier.isciii.es/er/prg/er_bus2.asp?cod_enf=2953
β-Sitosterolemia And Xanthomatosis Besides ßsitosterolemia and xanthomatosis, no other physical, mental, The occurrence of ß-sitosterolemia in these two sisters with un-affected parents http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=4360855
Science -- Sign In (B) The mutations detected in patients with sitosterolemia (Table 1) are indicatedon a schematic model of ABCG5 (left) and ABCG8 (right). http://www.sciencemag.org/cgi/content/full/290/5497/1771/F1
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