WESTPORT, Sep 16 (Reuters) - The Gene Responsible For The Uncommon WESTPORT, Sep 16 (Reuters) The gene responsible for the uncommon genetic lipid disorder 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.
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. The original report detailed 2 sisters who The defect associated with sitosterolemia manifests at 3 levels, culminating in greatly http://www.emedicine.com/ped/topic2110.htm
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: April 22, 2004 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, 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
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. Untreated, the condition 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 in untreated patients.
Sitosterolemia - Information / Diagnosis / Treatment / Prevention home nutrition and metabolism disorders cholesterol and other fats sitosterolemia sitosterolemia. Information Diagnosis Treatment Prevention. http://www.healthcyclopedia.com/nutrition-and-metabolism-disorders/cholesterol-a
Entrez PubMed Click here to read sitosterolemia exclusion of genes involved in reduced cholesterol biosynthesis. Patel SB, Honda A, Salen G. Center http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra
WWW: Sitosterolemia All about sitosterolemia www from BigTome.com Learn about sitosterolemia - www.medterms.com. Relevant information on sitosterolemia produced by U.S. board certified physicians. http://www.bigtome.com/big/page/Sitosterolemia
Entrez PubMed Click here to read A mouse model of sitosterolemia absence of Abcg8/sterolin2 results in failure to secrete biliary cholesterol. http://www.biomedcentral.com/pubmed/15040800
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Lipids Online Slides: Atherosclerosis, Apolipoprotein B Developed by Baylor College of Medicine, Lipids Online provides upto-date resources for researchers, faculty, and clinicians in atherosclerosis and other lipid disorders. indicated for treatment http://www.lipidsonline.org/slides/slide01.cfm?q=atherosclerosis&dpg=25
Extractions: Fabry's ... Cholesterol and Other Fats : Sitosterolemia Abnormal metabolism of shellfish sterols in a patient with ... - Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis. Gregg RE, Connor WE, Lin DS, Brewer HB Jr. Applied Genetics News: Sitosterolemia Genes Discovered. Conditions and Diseases - Sitosterolemia Top Links - Sitosterolemia Web Site Links. Sitosterolemia - A press release with a brief explanation of this disease. Sitosterolemia - An article Dominion Web Directory - /Health/Conditions_and_Diseases ... - Top: Health: Conditions_and_Diseases: Nutrition_and_Metabolism_Disorders: Cholesterol_and_Other_Fats: Sitosterolemia: Sitosterolemia (3). GeneCards Disorder Information: sitosterolemia - GeneCards Disorder Information: sitosterolemia. Search different databases containing disease information by clicking on the buttons below. Geometry.Net - Health_Conditions: Sitosterolemia - Health Conditions and Diseases sitosterolemiaWESTPORT, Sep 16 (Reuters) The gene responsible for the uncommon genetic lipiddisorder sitosterolemia has been Geometry.Net - Health_Conditions: Sitosterolemia
Disease Directory : Sitosterolemia 12.1 Familiaalinen hyperkolesterolemia, FHtauti. M. Salo 16.8.96 Lastenendokrinologien Directory Listing. Title sitosterolemia http://www.diseasedirectory.net/detailed/22659.aspx
Lipids Online Slides: Sitosterolemia, Beta-sitosterolemia, Plant Sterols slides in tray 0. Add Search Results to Tray. Search Slides. Index of Slide Contents. search sitosterolemia results 17. 1 2 sitosterolemia, aka phytosterolemia. http://www.lipidsonline.org/slides/slide01.cfm?q=sitosterolemia
Lipids Online Slides: Cholesterol, Plant Sterols, Phytosterols sitosterolemia A Rare Genetic Disorder Leads to Insight into an Important Physiological Process (Shailesh B. Patel, BM, ChB, FRCP). 1 2 3 sitosterolemia. http://www.lipidsonline.org/slides/slide01.cfm?tk=29
Sitosterolemia Information Diseases Database 3 synonyms or equivalents were found. sitosterolemia aka/or Phytosterolemia aka/or Sitosterolaemia Medical information linkssitosterolemia specific sites. http://www.diseasesdatabase.com/ddb29796.htm
