Sitosterolemia An article about this uncommon genetic lipid disorder and the gene that is responsible for it.Category Health Conditions and Diseases sitosterolemiaWESTPORT, Sep 16 (Reuters) The gene responsible for the uncommon genetic lipiddisorder sitosterolemia has been localized to a defined region on chromosome http://www.intelihealth.com/ipn/pcn/HN/s_r/00196749.htm
Extractions: WESTPORT, Sep 16 (Reuters) - The gene responsible for the uncommon genetic lipid disorder sitosterolemia has been localized to a defined region on chromosome 2p21.The researchers reporting the finding suggest that identification of the gene could elucidate the mechanisms underlying cholesterol absorption, and lead to potential treatments for sitosterolemia itself. Patients with sitosterolemia "...appear to hyperabsorb both cholesterol and plant sterols from the intestine," Dr. Shailendra B. Patel of the University of Texas Southwestern Medical Center in Dallas and a multicenter team explain.They studied 10 families with the disorder in order to begin to identify the gene responsible for the disease. "The disease locus for sitosterolemia maps to 2p21, to an interval no larger than 15 cM, spanned by the microsatellite markers D2S1788 and D2S1352," Dr. Patel and associates report in the September 1st issue of The Journal of Clinical Investigation.Based on the different races of the 10 families and the lack of genetic heterogeneity, the authors suspect that "...there is only one locus that is responsible for causing this disease." Of the genes already mapped to this region, the researchers say, none is likely to be a candidate for the sitosterolemia gene "...based on their known and/or proposed functions."They hope that the eventual identification of the gene responsible for this disorder will help clarify the processes underlying cholesterol metabolism and sterol identification and elimination.
Press Release A press release with a brief explanation of this disease. http://www.musc.edu/frd/P200047ncs.htm
Extractions: Identification of a gene responsible for regulation of body sterols Non-Confidential Summary Summary: Sitosterolemia is due to an autosomal recessive single gene defect that leads to net retention of dietary cholesterol and abnormal retention of non-cholesteral sterols in the body. This results in increased atherosclerotic heart disease. We have identified the gene defect. Our evidence is that many of our probands with sitosterolemia have this defect. It is our hypothesis that this gene and its protein product may be useful targets in developing pharmacological therapies aimed at alleviating cardiovascular disease. Objective: MUSC seeks licensees for screening compounds against this target. For additional information, contact: M. Pearce Gilbert
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: phytosterolemia, pseudohomozygous familial hypercholesterolemia Background: Sitosterolemia is a rare inherited plant sterol storage disease. Bhattacharyya and Connor first described this disease in 1974. The original report detailed 2 sisters who presented with extensive tendon xanthomas but normal plasma cholesterol levels. Subsequently, they were found to have significantly elevated plasma levels of plant sterols in the form of beta-sitosterol, campesterol, and stigmasterol. Sitosterolemia is characterized by tendon and tuberous xanthomas and by a strong propensity towards premature coronary atherosclerosis. Significant increases of plant sterols (phytosterols) are found in blood and various tissues. Arteries and xanthomas in patients with sitosterolemia contain increased amounts of these sterols, particularly sitosterol, stigmasterol, campesterol, and their 5-alpha derivatives. The disease causes a significant increase in morbidity and mortality for those affected. Coronary heart disease and its inherent health consequences are the primary causes of illness and premature death.
EMedicine - Sitosterolemia : Article By Robert D Steiner, MD sitosterolemia sitosterolemia is a rare inherited plant sterol storage disease.Bhattacharyya and Connor first described this disease in 1974. sitosterolemia. http://www.emedicine.com/ped/topic2110.htm
Extractions: (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: October 31, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: phytosterolemia, pseudohomozygous familial hypercholesterolemia AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Robert D Steiner, MD , Head, Division of Metabolism, Associate Professor, Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health and Science University Coauthor(s): Patricia Campbell, MD , Staff Physician, Department of Pediatrics, Doernbecher Children's Hospital Robert D Steiner, MD, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics American Medical Association , and American Society of Human Genetics Editor(s): Ian Krantz, MD
Sitosterolemia Resources On The Internet Search millions of published articles for news on sitosterolemia. The eLibrary newspaper and magazine archive contains http://www.healthcyclopedia.com/sitosterolemia.html
Extractions: The eLibrary newspaper and magazine archive contains articles from current and back issues of hundreds of publications, including: Modern Medicine Aging The Ardell Wellness Report HealthFacts The Journal of Environmental Health Medical Post Medical Update Men's Health and the National Women's Health Report
Sitosterolemia From Pediatrics / Genetics And Metabolic Disease sitosterolemia sitosterolemia is a rare inherited plant sterol storage disease. Backgroundsitosterolemia is a rare inherited plant sterol storage disease. http://author.emedicine.com/ped/topic2110.htm
Extractions: AUTHOR INFORMATION Section 1 of 11 Authored by Robert D Steiner, MD , Head, Division of Metabolism, Associate Professor, Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health and Science University Coauthored by Patricia Campbell, MD , Staff Physician, Department of Pediatrics, Doernbecher Children's Hospital Robert D Steiner, MD, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics American Medical Association , and American Society of Human Genetics Edited by Ian Krantz, MD , Assistant Professor, Department of Pediatrics, University of Pennsylvania and Children's Hospital of Philadelphia; Robert Konop, PharmD , Clinical Assistant Professor, Department of Pharmacy, Section of Clinical Pharmacology, University of Minnesota; Robert Anthony Saul, MD
Sitosterolemia A striking exception occurs in sitosterolemia, an autosomal recessive disorder characterized by increased intestinal http://www.lastenendo.sci.fi/luku92/921.html
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.
Extractions: Apolipoprotein Deficiency Research Study If you have a mutation in a plasma apolipoprotein (the protein portion of a lipoprotein), you are invited to participate in a study that will evaluate the development and follow the natural history of atherosclerosis in your disorder. Many apolipoprotein mutations have been described including apolipoprotein A-I (apoA-I), apolipoprotein A-II (apoA-II), apolipoprotein B (apoB), apolipoprotein C-I (apoC-I), apolipoprotein C-II (apoC-II), apolipoprotein C-III (apoC-III) and apolipoprotein E (apoE). A variety of clinical and research techniques will be used to assess and follow the development of atherosclerosis. Recommendations for treatments will be provided based upon these findings. 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 or medical testing.
Extractions: Search through: Entire site Sitosterolemia DIRECTORY Health/Fitness Diseases Nutrition and Metabolism Disorders ... Scientists Closer To Locating Gene That May Explain Cholesterol Absorption - An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease. Sitosterolemia - A press release with a brief explanation of this disease. Sitosterolemia - An article about this uncommon genetic lipid disorder and the gene that is responsible for it.
Extractions: AUTHOR INFORMATION Section 1 of 12 Authored by Robert D Steiner, MD , Head, Division of Metabolism, Associate Professor, Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Oregon Health and Science University Coauthored by Laura S Martin, MD , Director of Medical Genetics, Assistant Professor, Department of Pediatrics, Madigan Army Medical Center and University of Washington; Roderick F Hume, MD , Chief, Department of Clinical Investigation, Associate Professor, Department of Obstetrics and Gynecology, Madigan Army Medical Center Robert D Steiner, MD, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics American Medical Association , and American Society of Human Genetics Edited by Elaine H Zackai, MD
Sitosterolemia : Meddie Health Search Scientists Closer To Locating Gene That May Explain Cholesterol Absorption An articleabout a study of 10 families with sitosterolemia, a rare, recessively http://www.meddie.com/search/Health/Conditions_and_Diseases/Nutrition_and_Metabo
Searchalot Directory For Sitosterolemia Related Web Sites. sitosterolemia A press release with a brief explanationof this disease. sitosterolemia - An article about this http://www.searchalot.com/Top/Health/ConditionsandDiseases/NutritionandMetabolis
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Entry Page Tian,H.; Graf,GA; Yu,L.; Grishin,NV; Schultz,J.; Kwiterovich,P.; Shan,B.; Barnes,R.;Hobbs,HH; Accumulation of dietary cholesterol in sitosterolemia caused by http://srs.wehi.edu.au/srs6bin/cgi-bin/wgetz?-id 1nof11KZa5v -e [SWISSNEW:'ABG8_
Entry Page Bruckert,E.; Pandya,A.; Brewer,HB Jr.; Salen,G.; Dean,M.; Srivastava,AK; Patel,SB;Two genes that map to the STSL locus cause sitosterolemia genomic structure http://srs.wehi.edu.au/srs6bin/cgi-bin/wgetz?-id 4looS1KZafB -e [SWISSNEW:'ABG8_