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Tangier Disease:     more detail

Tangier disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Lisa, MS, CGC Andres, 2005 Tangier Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19 Tangier Disease Tonsils and apolipoproteins;: Lessons about plasma lipoproteins derived from Tangier disease and other mutants (Jiménez Díaz memorial lecture) by Donald S Fredrickson, 1976

lists with details

61. ArterialHealth E-News: October 1999 Issue
    The identification of a gene linked to tangier disease, a rare inherited illness,may open the door to a host of new cholesterollowering therapies.  
    http://www.full-health.com/atherosclerosis/1099.htm
    
    Extractions: A genetic defect that causes iron overload disease is the most common inherited disorder among whites, affecting one in 188 people of northern European descent. The study found that a simple test caught 94 percent of people with the inherited flaw. However, the defect in the HLE gene does not account for all inherited forms of the disease, known as hemochromatosis. Other flawed genes apparently cause the disease in other ethnic groups. In hemochromatosis, the body is unable to get rid of excess iron. Over time, iron accumulation in the organs can cause skin discoloration, arthritis, diabetes, liver disease and heart failure. The only effective treatment is bloodletting. If untreated, men generally start suffering permanent liver damage and other problems in their mid-40s; women usually don't get sick until a decade later, probably because they have lost blood regularly through menstruation and childbirth. COMMENT:

62. Gene For Good Cholesterol Found
    The gene, ABC1, was discovered while researching tangier disease. Mutations inABC1 in tangier disease and familial highdensity lipoprotein deficiency.  
    http://biomed10.lib.umn.edu/hmed/990803_hdl.html

63. FreemanPubs
    Decreased cholesterol efflux from fibroblasts of a patient without tangier disease,but with markedly reduced high density lipoprotein cholesterol levels.  
    http://genetics.mgh.harvard.edu/FreemanWeb/Pubs.html

64. Ntsad's What Every Family Should Know: The Allied Diseases Profiled
    2, AR. Pelizaeus Merzbacher Disease, Lipophlin, 312080, Yes, Yes,X, XLinked. tangier disease, Apo-Gln-1, 205400, No, No, ? (AR).Back to top.  
    http://www.ntsad.org/pages/ntsad.htm
    
    Extractions: The Allied Diseases Profiled TAY-SACHS AND THE ALLIED DISEASES ARE GENETIC CONDITIONS CLASSIFIED as storage diseases. They are caused by the abnormal accumulation, or storage, of certain waste products in the cells or tissues of affected individuals. As these products build up, cells become damaged and gradually lose their ability to function properly, causing disease symptoms. While the specific clinical courses of these related disorders differ, there are certain commonalities, and children and adults affected with Tay-Sachs or any of the allied diseases share many issues associated with chronic, progressive illness. T he chart below provides a quick reference for the major characteristics of the allied diseases. Underlined words are links to more information on this site or elsewhere on the Internet. The Omim # refers to the catalogue citation on the Online Mendelian Inheritance In Man , the hypertext version of Victor McCusick's landmark catalogue of human genetic disease. A dditionally, the following Allied Diseases are profiled in more depth in their own sections: T his information is provided in response to a growing demand for knowledge and in the hopes of increasing awareness and understanding of these rare, but often devastating, diseases.

65. Faculty Profile - Oram
    PUBLICATIONS Francis GA, Knopp RH, and Oram JF Defective removal of cellularcholesterol and phospholipids by apolipoprotein AI in tangier disease.  
    http://depts.washington.edu/metab/faculty/oram.htm
    
    Extractions: Studies of biochemical mechanisms by which high density lipoprotein (HDL) removes cellular cholesterol and phospholipids. Characterization of cellular pathways involved in cholesterol trafficking and their regulation by lipoproteins, cytokines, and hormones. Identification and characterization of signaling molecules involved in modulating cholesterol trafficking. Identification of genes and gene products involved in HDL-mediated removal of cellular lipids. Studies of the molecular and cellular properties of ABCA1, a membrane transporter that mediates secretion of excess cellular cholesterol. Characterization of the properties of HDL apolipoproteins responsible for cellular interactions that facilitate lipid removal. Studies of the effects of diabetes on the properties and activity of ABCA1 and cellular cholesterol trafficking.

66. WebGuest - Open Directory : Health : Conditions And Diseases : Nutrition And Met
    Sites tangier disease An article about his disease, its symptoms,clinical symptoms, diagnosis and some dietary changes. Tangier  
    http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Nutrition

67. Studies And Papers- Gene Expression
    The tangier disease gene product ABC1 controls the cellular apolipoproteinmediatedlipid removal pathway Richard M. Lawn1, David P. Wade1, Michael R. Garvin1  
    http://www.bitsjournal.com/micro_array_case_studies1.html

68. CNN - Gene May Increase Risk For Heart Disease - October 22, 1999
    How the gene was found. A rare genetic disorder called tangier diseaseprovided the clue to the gene's discovery. Individuals with  
    http://www.cnn.com/HEALTH/9910/22/genetics.cardio.wmd/
    
    Extractions: By Christine Cosgrove (WebMD) Geneticists have located a gene that may be responsible for increasing the risk of heart disease. The gene, called ABC1, normally helps rid the body of cholesterol by maintaining sufficient levels of "good" cholesterol, also known as high density lipoprotein (HDL). But when mutated, the gene can no longer maintain levels of HDL, the researchers said Thursday at the 49th annual meeting of the American Society of Human Genetics in San Francisco. Michael Hayden, one of the lead researchers and a professor of medical genetics at the University of British Columbia, said the study revealed that people with this genetic defect who have low HDL levels are at just as much risk for heart disease as people with high levels of low density lipoprotein (LDL), commonly called "bad" cholesterol.

69. Alphabetical Topic Index (AZ) Jump To A B C D E F G H I J K L M
    Reentry Tachycardia, Sinoatrial Nodal Reentry Tachycardia, Sinus Tachycardia, SinusTakayasu's Arteritis Takayasu's Arteritis tangier disease tangier disease  
    http://www.uscuh.com/apps/Intermap/topiclist/SectionT.html

70. ¿À´ÃÀÇ ´º½º
    Scientists have identified the gene for tangier disease, in which arare hereditary defect alters how the body handles cholesterol.  
    http://bric.postech.ac.kr/science/97now/99_8now/990803a.html
    
    Extractions: 3 Aug 1999 Scientists have identified the gene for Tangier disease, in which a rare hereditary defect alters how the body handles cholesterol. The discovery, reported in the August issue of Nature Genetics , raises the possibility of developing drugs that protect against heart disease by raising blood levels of high-density lipoprotein (HDL)a feat no one has yet accomplished. Enter Michael Hayden of the University of British Columbia in Vancouver. His group pinned down the approximate location of the gene by looking to see which chromosome 9 "markers" were consistently found in Tangier patients, but not in unaffected family membersan indication that the gene and marker lie close to one another. Meanwhile, Gerd Schmitz's group at the University of Regensburg in Germany looked for genes that were expressed differently in the cholesterol-laden cells of Tangier patients than in normal cells. This search also fingered the gene as the most likely candidatean ID confirmed when the gene turned up mutated in all five Tangier patients that the Schmitz team studied. Assmann's group found

71. Tangier Disease
    tangier disease tangier disease http//www.ncbi.nlm.nih.gov An explanationof this disease and its name, its causes and treatment.  
    http://www.medlina.com/tangier_disease.htm

72. Atherosclerosis Study Sheet
    tangier disease articles What are the symptoms of tangier disease?Where does it come from? What gene is mutated in tangier disease?  
    http://www.bio.davidson.edu/people/kahales/362HumGen/studysheets/Atherosclerosis
    
    Extractions: Your outline of this paper (as mentioned in the syllabus) should consist mainly of a flow chart of the events that lead to atherosclerosis, including important gene products that contribute at each step. My own flow chart includes about ten steps. Don't get bogged down in all the details- try to flesh out what is important. Fazio et al paper:

73. Lipid Metabolism Laboratory
    Subpopulations of highdensity lipoproteins in homozygous and heterozygous Tangierdisease. Cholesterol and apolipoprotein B metabolism in tangier disease.  
    http://hnrc.tufts.edu/departments/labs/lipid.shtml
    
    Extractions: USDA Lipid Metabolism Laboratory Cardiovascular disease, including coronary heart disease and stroke, is the leading cause of death and disability. The major risk factors include age, gender, elevated low-density lipoprotein cholesterol blood levels, decreased high-density lipoprotein cholesterol levels, cigarette smoking, hypertension, and diabetes. Emerging risk factors include elevated lipoprotein (a), remnant lipoproteins, and C reactive protein. Dietary intake and physical activity also impact cardiovascular risk, as do genetics. Hypertension and age are the major risk factors for stroke. The Lipid Metabolism Laboratory examines the interrelationships between cholesterol, dietary fatty acid, and carbohydrate consumption, lipoprotein metabolism, genetics and aging in the development of cardiovascular disease. Studies focus on identifying lipid and lipoprotein abnormalities and genetic mutations associated with coronary heart disease, stroke, and dementia risk. The laboratory is developing nutritionally optimal diets for fatty acids, cholesterol, and other dietary constituents in the elderly to minimize the risk of cardiovascular disease and dementia. Research also focuses on the genetic basis for the wide variability in response to cholesterol-lowering diets and heart disease risk, the prevention of diet-induced atherosclerosis in animal models, and the role of hormone replacement in the elderly in coronary heart disease risk reduction.

74. Margaret E. Brousseau
    Cellular cholesterol efflux in heterozygotes for tangier disease is markedly reducedand correlates with high density lipoprotein cholesterol concentration and  
    http://hnrc.tufts.edu/scientists/people/mbrousseau.php
    
    Extractions: Gerald J. and Dorothy R. Friedman School of Nutrition Science and Policy at Tufts University Research Focus Genetics of high density lipoprotein (HDL) deficiency states; effect of dietary fatty acids and cholesterol on genes involved in lipoprotein metabolism regulation; design of novel therapies for the treatment of dyslipoproteinemias, particularly HDL deficiency states Academic Appointments Assistant Professor, Gerald J. and Dorothy R. Friedman School of Nutrition Science and Policy at Tufts University

75. Networks Of Centres Of Excellence
    Deficiency, a genetic disorder which causes early onset of heart and cardiovasculardisease, as well as the more rare and severe tangier disease, the research  
    http://www.nce.gc.ca/media/newsrel/archives/030899_e.htm
    
    Extractions: ABC1 Gene Provides Target for Novel Cardiovascular Disease Treatments - Report Published in Nature Genetics Vancouver, August 3, 1999 - Canadian researchers announced today the discovery of a gene responsible for two genetic diseases that result in low levels of HDL or "good" cholesterol and a highly elevated risk of cardiovascular disease. The research, published today in the journal Nature Genetics , provides insight into how HDL cholesterol levels are regulated in the body and may lead to new treatments for cardiovascular disease. The discovery was a result of a pan-Canadian collaboration, involving Xenon Bioresearch Inc. and a consortium of Canadian and international research institutions. "Although medical science has developed effective methods to lower LDL or 'bad' cholesterol, until now we have not understood crucial mechanisms which elevate levels of HDL cholesterol. Our research reported today explains an important genetic cause for HDL cholesterol deficiency and provides crucial insights into mechanisms for preventing cardiovascular disease," said Dr. Michael Hayden, principal investigator in the study. "By studying two diseases which had previously appeared to be separate in cause, we have located similar genetic mutations in the same gene which result in low HDL cholesterol and a significantly increased risk of cardiovascular disease. This genetic target may provide a method for developing compounds to elevate low HDL cholesterol levels, the most common abnormality associated with cardiovascular disease."

76. Angela Brooks-Wilson - Publications [Genome Sciences Centre : BC Cancer Research
    Cholesterol efflux regulatory protein, tangier disease and familial highdensitylipoprotein deficiency. Curr Opin Lipidol 11(2)117-22. (2000).  
    http://www.bccrc.ca/gsc/pubs_angelab.html
    
    Extractions: Research Departments People Publications Home ... Publications Angela Brooks-Wilson Genome Sciences Centre Angela Brooks-Wilson Switch to Angela Brooks-Wilson's research page... Selected Publications Peer-Reviewed Papers Hayden MR, Clee SM, Brooks-Wilson A, Genest J Jr, Attie A, Kastelein JJ. Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency. Curr Opin Lipidol 11(2):117-22. [View Abstract - PubMed 10787172] Request Paper Peer-Reviewed Papers Selected Publications van Dam MJ, de Groot E, Clee SM, Hovingh GK, Roelants R, Brooks-Wilson A, Zwinderman AH, Smit AJ, Smelt AH, Groen AK, Hayden MR, Kastelein JJ. Association between increased arterial-wall thickness and impairment in ABCA1-driven cholesterol efflux: an observational study. Lancet 359(9300):37-42. [View Abstract - PubMed 11809185] Request Paper Clee SM, Zwinderman AH, Engert JC, Zwarts KY, Molhuizen HO, Roomp K, Jukema JW, van Wijland M, van Dam M, Hudson TJ, Brooks-Wilson A, Genest J Jr, Kastelein JJ, Hayden MR. Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease.

77. Medline Record 88196137
    isolated and characterized the apoAI gene from a lambda L47.1 genomic library constructedwith DNA obtained from the lymphocytes of a tangier disease patient.  
    http://www.aeiveos.com/Aging/Authors/makrides-sc/88196137.html
    
    Extractions: Title: Sequence and expression of Tangier apoA-I gene. Author(s): Makrides SC; Ruiz-Opazo N; Hayden M; Nussbaum AL; Breslow JL; Zannis VI Address: Department of Medicine, Boston University Medical Center, Massachusetts 02118. Source: Eur J Biochem 1988 Apr 15;173(2):465-71 Abstract: We have isolated and characterized the apoA-I gene from a lambda L47.1 genomic library constructed with DNA obtained from the lymphocytes of a Tangier disease patient. The DNA-derived protein sequence of Tangier apoA-I was found to be identical to normal apoA-I. Transfection of mouse C127 cells with a recombinant vector containing the Tangier apoA-I gene (pSV2-gpt apoA-I) allowed selection of stable clones resistant to aminopterin and mycophenolic acid. Analysis of these clones for apoA-I synthesis showed that the protein secreted by cells expressing the Tangier apoA-I gene was indistinguishable from the apoA-I secreted by HepG2 cells. These experiments establish that the Tangier apoA-I gene is structurally normal. It appears that the molecular basis of Tangier disease is not related to apoA-I structure or regulation of expression, but rather to other factors pertinent to apoA-I and high-density lipoprotein metabolism Major Indexes: Apolipoproteins A [genetics] Gene Expression Regulation Genes, Structural

78. International Union Of Pure And Applied Chemistry
    together with two other groups showed that mutations in the human ABCA1 gene causethe rare disorder of lipid disorder known as tangier disease, which is  
    http://www.iupac.org/news/prize/2002/lorkowski.html
    
    Extractions: for Young Chemists - 2002 Stefan Lorkowski wins one of the first 4 IUPAC Prize for Young Chemists , for his Ph.D. thesis work entitled " Differential Gene Expression in Human Macrophages During Foam Cell Formation ." Current address (at the time of application) Augustastrasse 36, D-48153 Münster, Germany

79. THE MERCK MANUAL, Sec. 2, Ch. 16, Hypolipidemia And The Lipidoses
    (See also Spinocerebellar Degenerations in Ch. 179.). tangier disease (FamilialLipoprotein Deficiency). The genetic basis for tangier disease is unknown.  
    http://www.merck.com/pubs/mmanual/section2/chapter16/16a.htm
    
    Extractions: (Hypoproteinemia) Low lipoprotein levels in the plasma seen as rare familial disorders or secondary to hyperthyroidism, malabsorption, and malnutrition. Low levels of low density ( -) lipoproteins (LDL) can be seen in AIDS; hematologic malignancies, such as acute myelocytic leukemia and chronic myelocytic leukemia; and disorders with splenomegaly, such as Gaucher's disease. HYPOALPHALIPOPROTEINEMIA (Low HDL Levels) In many epidemiologic studies, low levels of high density ( -) lipoproteins (HDL) have been associated with increased coronary artery disease (CAD) risk. Low HDL levels often are due to genetic factors. Additionally, HDL levels are reduced by obesity, sedentary lifestyle, cigarette use, diabetes mellitus, uremia and nephrotic syndrome, and several drugs (thiazide diuretics, retinoids, -blockers, androgenic steroids, most progestational drugs, and probucol).

80. Margaret E. Brousseau | Tufts Nutrition Faculty
    et al. Novel mutations in the gene encoding ATPbinding cassette 1in four tangier disease kindreds. J Lipid Res 2000;41433-41.  
    http://nutrition.tufts.edu/faculty/brousseau/margaret/
    
    Extractions: Assistant Professor Scientist II, Lipid Metabolism Laboratory, Jean Mayer USDA Human Nutrition Research Center on Aging Ph.D. in Nutrition, Tufts University School of Nutrition Science and Policy Phone Email margaret.brousseau@tufts.edu Research Interests : The genetics of rare, as well as common, high density lipoprotein (HDL) deficiency states; effect of dietary fatty acids and cholesterol on genes involved in the regulation of lipoprotein metabolism; design of novel therapies for the treatment of dyslipoproteinemias, particularly HDL deficiency states. Select Publications Brousseau ME, Kauffman RD, Herderick EE, et al. Lecithin: cholesterol acyltransferase modulates plasma lipoproteins and the extent of atherosclerosis only in the presence of normal low density lipoprotein receptors. Arterioscler Thromb Vasc Biol Brousseau ME, Schaefer EJ, Dupuis J, et al. Novel mutations in the gene encoding ATP-binding cassette 1 in four Tangier disease kindreds. J Lipid Res Brousseau ME, Eberhart GP, Dupuis J, Goldkamp AL, Schaefer EJ, Freeman MW. Cellular cholesterol efflux in heterozygotes for Tangier disease is markedly reduced and correlates with high density lipoprotein cholesterol concentration and particle size.

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