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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 (JimeÌnez DiÌaz memorial lecture) by Donald S Fredrickson, 1976

lists with details

MD Net Guide
therapies. The gene identified has been linked to tangier disease (TD),a rare inherited cholesterolrelated illness. Study findings
http://www.mdnetguide.com/articles.shtml?issue=5&dept=6
Hypolipoproteinemia
tangier disease, causes only the cholesterol to be low. It also produces nerve andeye problems in children. There is no known treatment for tangier disease.
http://www.healthatoz.com/healthatoz/Atoz/ency/hypolipoproteinemia.html

Extractions: Definition Hypolipoproteinemia (or hypolipidemia) is the lack of fat in the blood. Description Although quite rare, hypolipoproteinemia is a serious condition. Blood absorbs fat from food in the intestine and transports it as a combined package with proteins and other chemicals like cholesterol. Much of the fat goes straight into the liver for processing. The cholesterol, a waste product, ends up in the bile. The proteins act as vessels, carrying the other chemicals around. These packages of fat, cholesterol, and proteins are called lipoproteins. Causes and symptoms Low blood fats can be the result of several diseases, or they can be a primary genetic disease with other associated abnormalities. Malnutrition is a lack of food, including fats, in the diet. Malabsorption is the inability of the bowel to absorb food, causing malnutrition. Anemia (too few red blood cells) and hyperthyroidism (too much thyroid hormone) also reduce blood fats. Rare genetic conditions called hypobetalipoproteinemia and abetalipoproteinemia cause malabsorption plus nerve, eye, and skin problems in early childhood.
Ashley Publications: Issues Header
3, pp. 427 438 Novel approaches to treating cardiovascular disease lessons fromtangier disease JF Oram Abstract Atherosclerotic cardiovascular disease (CVD
http://www.ashley-pub.com/vl=1/cl=5/nw=1/rpsv/cw/apl/13543784/v10n3/s3/p427

Extractions: ABOUT HELP CONTACT INFO LINKS ... FEEDBACK Expert Opinion on Investigational Drugs 2001, vol. 10, no. 3, pp. 427 - 438 Novel approaches to treating cardiovascular disease: lessons from Tangier disease J.F. Oram Abstract The requested document is not freely available Ashley Publications has not recognised you as a registered user. If you have registered to access a personal subscription to this title please enter your username and password on the right. Reprint request If you are interested in multiple reprints of this article, please complete the Reprint Request Form REGISTER SIGN IN: User name: Password: forgot your password?
ERDOA Speaker: Gordon Alexander Francis
efflux (reviewed in 4). The importance of this apoproteinmediated cholesterol effluxpathway is suggested by recent findings in tangier disease, a condition
http://www.utoronto.ca/erdoa/SPKRINFO/FRANCIS.HTM

Extractions: Web: http://www.ualberta.ca/~llrg/faculty/gaf.htm Dr. Gordon Francis completed his undergraduate honours biochemistry degree at Simon Fraser University in 1979, followed by a medical degree at McGill University in 1984. After a rotating internship at St. Paul's Hospital in Vancouver, BC, he completed his residency in internal medicine at University of British Columbia in 1989. A year of further fellowship work led to his certification as an endocrinology specialist in 1990. He then pursued four years as a research fellow at the University of Washington, studying HDL oxidation and reverse cholesterol transport. In 1994 he joined the Lipid and Lipoprotein Research Group and the Department of Medicine at the University of Alberta, as a Clinical Investigator of the Alberta Heritage Foundation for Medical Research. Since 1996 he has also been a Medical Research Council of Canada Scholar. Dr. Francis' clinical and research interests are in primary and secondary prevention of atherosclerotic vascular disease, management of diabetes mellitus, and the cellular mechanisms of HDL-mediated protection against vascular disease.
Course Handouts
8 PDH Defect; Case Workup 8 - PDH Defect; Case History 9 - tangier'sdisease; Case Workup 9 - tangier's disease; Case History 10
http://www.neoucom.edu/DEPTS/BIOC/Cases/Case List 2002-2003.htm
JAX®Mice Database - Mouse/Human Gene Homologs: Tangier's Disease
Search Criteria Area is Mouse/Human Gene Homologs tangier's disease .JAX®Mice Strains. Stock Number, Strain Name (link to Data
http://jaxmice.jax.org/jaxmicedb/html/model_1548.shtml
Disease Directory - Index.
In Immunosurveillance. Apoptosis; Apolipoprotien See also Tangierdisease; Asthma; Atrium; Atro-Ventricular node; Atherosclerosis; ATP;
http://www.diseasedir.org.uk/gloss.htm
UCSF Office Of Technology Management Available Technologies
Two genetic disorders that lead to early onset of coronary artery disease, Tangierdisease and the more common Familial HDL Deficiency, are characterized by
http://itsa.ucsf.edu/~otm/tech/SF00-078.html
Universität Münster: Forschungsbericht 1999-2000 - Inhaltsverzeichnis Interdis
Translate this page Gefäßkrankheiten. B7-Identifikation der genetischen Ursache von TangierDisease - Erstellung und Analyse eines Contigs für Chromosom 9q31.
http://www.uni-muenster.de/Rektorat/Forschungsberichte-1999-2000/fo05cbb06.htm

Extractions: Beteiligte Wissenschaftler: Prof. Dr. G. Assmann, Dr. St. Rust : Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nature Genetics, 22: 352 - 355, 1999 : Human ATP-binding cassette transporter 1 (ABC1): genomic organization and identification of the genetic defect in the original Tangier disease kindred. Proc Natl Acad Sci USA, 96: 12685 - 90 A.T.R., S.R., and M.R. contributed equally to this paper, 1999 : A defective gene associated with atherosclerosis: tangier disease is caused by mutations in the ATP binding cassette tranporter 1 (ABC1). The American Society of Human Genetics, 49th Annual Meeting, San Francisco, California, USA, October 19-23, 1999 : Abstract (No 172) hierzu in: The American Journal of Human Genetics, 65, Suppl., p. 38 (1999)
Temporary Inhibition Of P53 For Reduced Side Effects In Anticancer Therapy
Bodzioch M et al, 1999 uid=10431237; Rust S et al, 1999 uid=10431238) on Tangierdisease (TD) and the familial mutation of its locus at chromosome 9q31.
http://ihumans.com/news_comments_archive/lipoprotein_transport.htm

Extractions: iHumans.com http://ihumans.com Home Site Map Contact Us ... jzêÌy[W 30 August, 1999 Transport of Plasma Lipoproteins and New Targets for Drug Development Elevated plasma levels of apolipoprotein B (apoB)-containing lipoproteins constitute a major risk factor for the development of coronary heart disease. In the rare recessively inherited disorder abetalipoproteinemia (ABL), the production of apoB-containing lipoproteins is abolished, despite no abnormality of the apoB gene. Recently it was found that the gene encoding a microsomal triglyceride-transfer protein (MTP; chromosome 4q22-24) is mutated in both alleles of all affected individuals (Narcisi TM et al, 1996: uid=96065017 ). MTP is a heterodimeric lipid protein localized in the endoplasmic reticulum of hepatocytes and enterocytes, and composed of the ubiquitous multifunctional protein, protein disulÞde isomerase, and a unique 97-kDa subunit. In fact, mutations (deletions and missense Arg540His) that lead to the absence of a functional 97-kDa subunit cause ABL, characterized by a defect in the assembly and secretion of apoB-containing lipoproteins (Rehberg EF et al, 1996: uid=97094705 ). In this disease, plasma apoB-containing lipoproteins, namely VLDL (very low density lipoprotein, containing B48 or B100) and LDL (low density lipoprotein), are virtually absent. Plasma cholesterol levels are ca 40 mg/dl and plasma triglyceride levels are less than 10 mg/dl in the patients, whereas normal adults have levels of 180-220 and 100-150 mg/dl, respectively. Clinically, affected people have fat malabsorption and have triglyceride accumulation in enterocytes and the liver, with symptoms such as spinocerebellar ataxia and peripheral neuropathy.

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