Home > Touro College New York > Lander College of Arts and Sciences > The Science Journal of the Lander College of Arts and Sciences > Vol. 7 > No. 2
The Science Journal of the Lander College of Arts and Sciences
Abstract
Named after the two scientists who independently described the condition, Hutchinson-Gilford Progeria Syndrome (HGPS) occurs due to a mutation in the LMNA gene that codes for Lamin A, a filament protein that acts to form the nuclear lamina in the cell nucleus. This mutation is a single C-to-T substitution at nucleotide 1824 of the LMNA gene. As a result of this mutation, an abnormal protein named 'progerin' is synthesized instead of Lamin A, causing the nuclear membrane to be malformed. Since protein farnesylation is needed to target progerin to the nuclear rim, farnesyltransferase inhibitor has been proposed as a form of treatment that could reduce the occurrence of misshapen nuclei and alleviate HGPS symptoms.
Recommended Citation
Hersh, P. (2014). Hutchinson-Gilford Progeria Syndrome: Pathophysiology and Possible Treatments. The Science Journal of the Lander College of Arts and Sciences, 7(2). Retrieved from https://touroscholar.touro.edu/sjlcas/vol7/iss2/9
