Sitosterolemia An article about this uncommon genetic lipid disorder and the gene that is responsible for it. 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.
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Last Updated: July 1, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: phytosterolemia, pseudohomozygous familial hypercholesterolemia, pseudohomozygous hypercholesterolemia, sitosterol, stigmasterol, campesterol, plant sterols, coronary atherosclerosis, , xanthomas, autosomal recessive genetic condition, bile acid-binding resins, xanthelasma, corneal arcus, hemolytic anemia, thrombocytopenia, lipid disorder, lipid disease, lipid storage disorder, lipid storage disease, hyperlipidemia AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography
EMedicine - Sitosterolemia Article Excerpt By Robert D Steiner sitosterolemia sitosterolemia is a rare inherited plant sterol storage disease. Bhattacharyya and Connor first described this disease in 1974. The http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
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Sitosterolemia WESTPORT, Sep 16 (Reuters) The gene responsible for the uncommon genetic lipid disorder sitosterolemia has been localized to a defined region on http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Sitosterolemia Article describes sitosterolemia, its symptoms, diagnosis, and treatment. http://rarediseases.about.com/od/rarediseasess/a/052604.htm
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Sitosterolemia - Evaluation, Treatment And Research At The The National Heart, Lung and Blood Institute is actively seeking patients with sitosterolemia to receive free evaluation and/or treatment in our http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Sitosterolemia This very rare disorder causes an accumulation of plant sterols in the blood.Left untreated, it can lead to coronary artery disease . http://rarediseases.about.com/b/a/089041.htm
Extractions: zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/7.htm','');w(xb+xb); Sign Up Now for the Rare / Orphan Diseases newsletter! Advertisement Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Charcot-Marie-Tooth Disease Peyronie's Disease Twin-to-Twin Transfusion Synd Autoimmune Kidney Disease ... Cri-du-Chat Syndrome adunitCM(150,100,'x55') Topic Index Email to a Friend New York Times Company Hurricane Katrina About's Hurricane Blogs NY Times Coverage Where to Donate Exclusive: One Family's Story ... How to Explain to Kids Related Topics Multiple Sclerosis Parenting Special Needs Sleep Disorders Headlines Cystic Fibrosis Foundation helps Hurricane Katrina victims Robert J. Beall, Ph.D, President and CEO of the Cystic...
Ezetimibe Effectively Reduces Plasma Plant Sterols In Patients Ezetimibe Effectively Reduces Plasma Plant Sterols in Patients With sitosterolemia G. Salen, MD* ; K. von Bergmann, MD* ; D. L tjohann, PhD http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Entrez PubMed sitosterolemia in ABCtransporter G5-deficient mice is aggravated on activationof the liver-X receptor. Plosch T, Bloks VW, Terasawa Y, Berdy S, Siegler K, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
Down-regulation Of Cholesterol Biosynthesis In Sitosterolemia Downregulation of cholesterol biosynthesis in sitosterolemia diminished activities of acetoacetyl-CoA thiolase, 3-hydroxy-3-methylglutaryl-CoA http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Lipids Online Slides: Sitosterolemia, Plant Sterols, Phytosterols Developed by Baylor College of Medicine, Lipids Online provides upto-dateresources for researchers, faculty, and clinicians in atherosclerosis and other http://www.lipidsonline.org/slides/slide01.cfm?q=sitosterolemia
BioMed Central Full Text A Mouse Model Of Sitosterolemia sitosterolemia (MIM 210250, also known as phytosterolemia) is a rare autosomal, recessively inherited disorder characterized by elevated blood http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Lipids Online Slides: Homozygous Sitosterolemia, Ezetimibe, Phytosterols Developed by Baylor College of Medicine, Lipids Online provides upto-dateresources for researchers, faculty, and clinicians in atherosclerosis and other http://www.lipidsonline.org/slides/slide01.cfm?q=homozygous sitosterolemia
BioMed Central Pre-publication History A Mouse Model Of Prepublication history for A mouse model of sitosterolemia absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol Eric http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
