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In just 5 years, gene discovery to clinical trial of potential treatment
Date:12/14/2008

n A/C processing was characterized in the 1980s.

Until the late 1990s, however, funding for nuclear lamina research was sparse. Still, the link to HGPS in 2003 electrified the field, since Dr. Goldman and other lamin researchers had a good hunch about what might be going wrong in this children's disease of accelerated aging.

Years of basic research studies showed that the Lamin A protein production depends on the farnesyl group molecules' attaching themselves to the pre-lamin A protein. This attachment and progerin production can be blocked by a FTI drug, NHGRI scientists soon discovered in their studies of laboratory cultures of cells from HGPS patients.

And, the laboratory research continues. In October, the Proceedings of the National Academy of Sciences published findings that the experimental FTI cancer drug, tipifarnib, can prevent -- and even reverse -- potentially fatal cardiovascular damage in a transgenetic mouse model of HGPS. Dr. Collins and Elizabeth Nabel, M.D., director of the National Heart, Lung and Blood Institute (NHLBI), headed these studies. Dr. Collins has continued to conduct research as a special volunteer in the Genome Technology Branch of NHGRI's Division of Intramural Research.


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Contact: Cathy Yarbrough
sciencematter@yahoo.com
858-243-1814
American Society for Cell Biology
Source:Eurekalert

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