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

Nutritional Approach Arterial Cleansing Formula Improved Conditions Controlled Risk Factors ... About Us Full Health Nutrition Canada ArterialHealth e-News October 1999 Iron Overload Disorder Common and Increases Risk for Heart Attacks 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: This is an important observation as heart disease is, of course, the number one disease in the US. About one in every 200 people have this problem. That means that many people have iron overload and are probably unaware of it.

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

Health and Medicine in the News Headline: Researchers discover gene that regulates 'good' cholesterol. Newspaper Article Synopsis: Scientists have found the gene that is responsible for the regulation of HDL cholesterol in the blood. The gene, ABC1, was discovered while researching Tangier disease. Tangier disease is a rare disorder in which the body produces no HDL cholesterol, leading to heart attacks and clogged arteries. Newspaper Article Source: Associated Press. Researchers discover gene that regulates 'good' cholesterol. Star Tribune 1999 August 3:A5(col. 1). Journal Article Citations: Brooks-Wilson, A., et al. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Nature Genetics 1999 Aug;22(4):336-345. Tangier disease is caused by mutations in the gene encoding ATP- binding cassette transporter 1. Nature Genetics 1999 Aug; 22(4):352-355. lam/8/3/99 Health and Medicine in the News HomePage Bio-Medical Library HomePage Bio-Medical Library University of Minnesota Minneapolis, MN 55455

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

Recent publications Eberhart, G.P., Mendez, A.J., and MW Freeman. Decreased cholesterol efflux from fibroblasts of a patient without Tangier Disease, but with markedly reduced high density lipoprotein cholesterol levels. J. Clin. Endo. Metabolism 1998:83;836-846. Andersson LA and MW Freeman. Functional changes in scavenger receptor binding conformation are induced by charge mutants spanning the entire collagen domain. J. Biol. Chem. 1998:273;19592-19601. Moore KJ, Fabunmi RP, Andersson LP and MW Freeman. In vitro differentiated embryonic stem cell macrophages: a model system for studying atherosclerosis-associated macrophage functions.Arterioscler Thromb Vasc Biol 1998;18:1647-1654. Fabunmi RP, Moore KJ, Libby P, and MW Freeman. Stromelysin-1 (MMP-3) expression driven by a macrophage-specific promoter results in reduced viability in transgenic mice. Atherosclerosis 1999; 148:375-386. Fitzgerald M, Moore KJ, MW Freeman, GL Reed. Lipopolysaccharide induces scavenger receptor-A expression in murine macrophages via a non-transcriptional mechanism. J Immunol. 2000; 164:2692-2700. Brousseau M, Eberhart GP, Schaefer EJ and MW Freeman. Cellular cholesterol efflux in heterozygotes for Tangier disease is markedly reduced and correlates with HDL cholesterol and particle size. J Lipid Res 2000; 41:1125-1135.

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

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: Tay-Sachs Disease Late-Onset Tay-Sachs Disease Sandhoff Disease Fabry Disease ... Canavan Disease 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

EDUCATION AND TRAINING Ph.D., Hershey Medical Center, Pennsylvania State University, Hershey, PA Fellowship, Hershey Medical Center, Department of Physiology John F. Oram, Ph.D Research Professor of Medicine Division of Metabolism, Endocrinology and Nutrition OFFICE ADDRESS University of Washington Medical Center 1959 NE Pacific Street UW Mailbox 356426 Seattle, WA 98195-6426 CURRENT RESEARCH INTERESTS 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. REPRESENTATIVE PUBLICATIONS Francis GA, Knopp RH, and Oram JF: Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier Disease. J Clin Invest 96:78-87, 1995.

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

Browse thru 1000's of books about health, mind and body: About Us Privacy Statement Acceptable Use Policy Legal Notices ... Contact Us the entire directory only in Cholesterol_and_Other_Fats/Tangier Top Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Tangier See also: Health: Conditions and Diseases: Neurological Disorders: Muscle Diseases Health: Conditions and Diseases: Rare Disorders Sites: Tangier Disease - An article about his disease, its symptoms, clinical symptoms, diagnosis and some dietary changes. Tangier Disease - An explanation of this disease and its name, its causes and treatment. Tangier Disease by Jackie Newman - An article about this rare disease, its history, characteristics of the disease and the treatments. Last update: 8:42 PT, Thursday, August 16, 2001 Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

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/

MAIN PAGE WORLD U.S. LOCAL ... daily almanac MULTIMEDIA: video video archive audio multimedia showcase ... more services E-MAIL: Subscribe to one of our news e-mail lists. Enter your address: document.write(' '); Or: Get a free e-mail account E-MAIL DISCUSSION: message boards chat feedback CNN WEB SITES: AsiaNow Svenska Norge Danmark ... Italian FASTER ACCESS: europe japan TIME INC. SITES: Go To ... Time.com People Money Fortune EW CNN NETWORKS: more networks transcripts SITE INFO: help contents search ad info ... jobs WEB SERVICES: health > story page Gene may increase risk for heart disease October 22, 1999 Web posted at: 3:20 p.m. EDT (1920 GMT) In this story: Improved coronary artery treatment How the gene was found The therapeutic outlook RELATEDS 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

Alphabetical Topic Index (A-Z): Jump To: A B C D ... Ty T Ta T-Lymphocytopenia, Idiopathic CD4-Positiv T-Lymphocytopenia, Idiopathic CD4-Positiv Tabes Dorsalis Tabes Dorsalis Tachycardia, Atrioventricular Nodal Reent Tachycardia, Atrioventricular Nodal Reent Tachycardia, Ectopic Atrial Tachycardia, Ectopic Atrial Tachycardia, Ectopic Junctional Tachycardia, Ectopic Junctional Tachycardia, Paroxysmal Tachycardia, Paroxysmal Tachycardia, Sinoatrial Nodal Reentry Tachycardia, Sinoatrial Nodal Reentry Tachycardia, Sinus Tachycardia, Sinus Takayasu's Arteritis Takayasu's Arteritis Tangier Disease Tangier Disease Tarsal Tunnel Syndrome Tarsal Tunnel Syndrome Tay-Sachs Disease Tay-Sachs Disease Back To Top ^ Te Teen Health Acne Overview And Treatment Contraception Eating Disorders in Teens Pelvic Inflammatory Disease (PID) ... Bulimia Nervosa Telangiectasia, Hereditary Hemorrhagic Telangiectasia, Hereditary Hemorrhagic Temporal Arteritis Temporal Arteritis Tendon Injuries Tendon Injuries Tennis Elbow Tennis Elbow Tenosynovitis Tenosynovitis Teratocarcinoma Teratocarcinoma Testicular Neoplasms Testicular Neoplasms Tetanus Tetanus Tetany Tetany Tetralogy of Fallot Tetralogy of Fallot Back To Top ^ Th Thalamic Diseases Thalamic Diseases Thalassemia Thalassemia Thanatophoric Dysplasia Thanatophoric Dysplasia Thecoma Thecoma Theileriasis Theileriasis Thrombasthenia Thrombasthenia Thromboangiitis Obliterans (Buerger's) Thromboangiitis Obliterans Thrombocythemia, Hemorrhagic

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

3 Aug 1999 Gene Linked to Faulty Cholesterol Transport 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

Academic Medicine Addiction Aging AIDS-HIV ... Women's Health The Web MEDLINA.com (partial) CDC WHO FDA NIH CATEGORIES Search: All Products Books Magazines Popular Music Classical Music Video DVD Baby Electronics Software Outdoor Living Wireless Phones Keywords: Home Up Tangier Disease Tay Sachs Disease Turner Syndrome Thromboangiitis Obliterans Treacher Collins Syndrome ... Thrombocytopenia Absent Radius Syndrome Tangier Disease Tangier Disease - http://www.ncbi.nlm.nih.gov An explanation of this disease and its name, its causes and treatment. Tangier Disease by Jackie Newman - http://www-personal.umd.umich.edu An article about this rare disease, its history, characteristics of the disease and the treatments. Tangier Disease - http://endeavor.med.nyu.edu An article about his disease, its symptoms, clinical symptoms, diagnosis and some dietary changes. SUBCATEGORIES Up powered by A merica M edica, I nc. info@medlina.com New York City

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

Bio 362 Human Genetics Spring 2003 Atherosclerosis study sheet for February 4th Back to syllabus Lusis review paper: 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: What are the the two hypotheses regarding the role of ApoE secretion by macrophages? What previous experiment (related to the one in this paper) had been done by the same research group? What had been problematic about it? How were the mice used in this study generated/manipulated? What were the control mice? How was it shown that the bone marrow really did come from the donor? What was measured to be the same between the experimental and control mice? What was different? (This pretty much encompasses all the figures and the table.) Given the experimental setup, did you expect serum levels of ApoE to be the same between the two types of mice? Why don't the researchers see a difference?

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

document.write(""); Home About Us Message from the Director Contact Us Directions Departments Core Service Units Administration Human Studies Scientific Staff Scientists Research Associates Visiting Scientists Information Resources Publications HNRCA Library Nutrition Aging ... 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

document.write(""); Home About Us Message from the Director Contact Us Directions Departments Core Service Units Administration Human Studies Scientific Staff Scientists Research Associates Visiting Scientists Information Resources Publications HNRCA Library Nutrition Aging ... USDA Margaret E. Brousseau, Ph.D. Scientist II, Lipid Metabolism Laboratory Jean Mayer USDA HNRCA at Tufts University 711 Washington Street Boston, MA 02111-1524 Phone: (617) 556-3107 FAX: (617) 556-3103 E-mail: margaret.brousseau@tufts.edu Education Ph.D., Nutritional Biochemistry 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 Assistant Professor, Tufts University School of Medicine

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

Canadian Researchers Discover Gene Responsible for Regulation of HDL Cholesterol Levels 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

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

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

I U P A C Prize for Young Chemists 2002 winners Standing Committees Divisions ... Home Page Winner of the IUPAC Prize 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 E-mail: stefan.lorkowski@uni-muenster.de Academic degrees Ph.D. in Biochemistry, University of Münster, March 2001 M.S. in Chemistry and Biochemistry, University of Münster, Sep. 1997 Accreditation as a Member of the Institute of Biology and as a Chartered Biologist, Dec. 2001 Accreditation as a Associate Member of the Royal Society of Chemistry; Aug. 2001 Accreditation as a Clinical Biologist of the Society of Clinical Biology and Bioanalytics, Feb. 2001 Ph.D. Thesis

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

This Publication Is Searchable The Merck Manual of Diagnosis and Therapy Section 2. Endocrine And Metabolic Disorders Chapter 16. Hypolipidemia And The Lipidoses Topics Hypolipidemia Lipidoses Hypolipidemia (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/

Search: School Publications External Relations Research ... Zeitlin, Marian F. Margaret E. Brousseau 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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