Lessons from a rare disease
Name
567643214-MIT.pdf
Description
Full printable version
Size
3.05 MB
Format
Adobe PDF
Checksum (MD5)
99c745eff0660002f9ade27fd5df0039
Author(s)
Dutchen, Stephanie Lynn
Advisor(s)
Marcia Bartusiak.
Date Issued
2009
Publisher
Massachusetts Institute of Technology
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.
(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.
Description
Thesis (S.M. in Science Writing)--Massachusetts Institute of Technology, Dept. of Humanities, Graduate Program in Science Writing, 2009.
Cataloged from PDF version of thesis.
Includes bibliographical references (p. 46-50).
Subjects
Graduate Program in Science Writing.
MIT Department
Massachusetts Institute of Technology. Graduate Program in Science Writing
MIT Program in Writing & Humanistic Studies
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