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Lessons from a rare disease

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dc.contributor.advisor Marcia Bartusiak. en_US Dutchen, Stephanie Lynn en_US
dc.contributor.other Massachusetts Institute of Technology. Graduate Program in Science Writing. en_US 2010-04-28T17:01:48Z 2010-04-28T17:01:48Z 2009 en_US 2009 en_US
dc.description Thesis (S.M. in Science Writing)--Massachusetts Institute of Technology, Dept. of Humanities, Graduate Program in Science Writing, 2009. en_US
dc.description Cataloged from PDF version of thesis. en_US
dc.description Includes bibliographical references (p. 46-50). en_US
dc.description.abstract Progeria is a genetic aging disease of childhood affecting an estimated one in four to eight million births. Children with progeria experience a range of developmental disorders and aging-like symptoms, including wrinkled and discolored skin, stunted growth, visible veins, fat loss, hair loss, bone loss, joint contractures, and heart disease. Their average life expectancy is thirteen. There is currently no treatment or cure. The disease arises from a single nucleotide mutation in the LMNA gene, which makes proteins called lamins that comprise the inner lining of the nuclear wall. The mutation leads to the production of a misshapen lamin called progerin that builds up with time, disrupting nuclear shape and function. It is not yet clear how these changes lead to the disease's symptoms. Doctors probe potential treatments while researchers explore progeria's potential links to far more widespread health problems such as aging, heart disease, and laminopathies. Experts debate the extent to which progeria represents normal human aging on overdrive. It is seen as a segmental aging disorder, sharing only some symptoms with aging. Progeria may reveal insights into basic biological phenomena such as gene expression, DNA regulation, RNA splicing, protein processing, cellular aging, and stem cell differentiation. Instrumental to the discovery of the progeria gene and the growth of scientific interest since 2002 has been The Progeria Research Foundation. en_US
dc.description.abstract (cont.) The story of its creation when Sam Berns, son of doctors Leslie Gordon and Scott Berns, was diagnosed with progeria in 1998, is also the story of the birth of modern progeria research in the U.S. Research highlighted in this thesis includes progeria's cardiovascular complications in transgenic mice; the discovery that progeria's symptoms can be reversed; clinical trials testing farnesyltransferase inhibitors or FTIs, statins and bisphosphonates, and all three together; the search for a cure; and the presence of progerin in the skin cells of healthy people. en_US
dc.description.statementofresponsibility by Stephanie Lynn Dutchen. en_US
dc.format.extent 50 p. en_US
dc.language.iso eng en_US
dc.publisher Massachusetts Institute of Technology en_US
dc.rights M.I.T. theses are protected by copyright. They may be viewed from this source for any purpose, but reproduction or distribution in any format is prohibited without written permission. See provided URL for inquiries about permission. en_US
dc.rights.uri en_US
dc.subject Graduate Program in Science Writing. en_US
dc.title Lessons from a rare disease en_US
dc.type Thesis en_US Science Writing en_US
dc.contributor.department Massachusetts Institute of Technology. Graduate Program in Science Writing. en_US
dc.identifier.oclc 567643214 en_US

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