Alteration of splice site selection in the LMNA gene and inhibition of progerin production via AMPK activation
J Finley - Medical hypotheses, 2014 - Elsevier
Abstract Hutchinson–Gilford Progeria Syndrome (HGPS) is a rare genetic condition
characterized by an accelerated aging phenotype and an average life span of 13 years.
Patients typically exhibit extensive pathophysiological vascular alterations, eventually
resulting in death from stroke or myocardial infarction. A silent point mutation at position
1824 (C1824T) of the LMNA gene, generating a truncated form of lamin A (progerin), has
been shown to be the cause of most cases of HGPS. Interestingly, this mutation induces the …
characterized by an accelerated aging phenotype and an average life span of 13 years.
Patients typically exhibit extensive pathophysiological vascular alterations, eventually
resulting in death from stroke or myocardial infarction. A silent point mutation at position
1824 (C1824T) of the LMNA gene, generating a truncated form of lamin A (progerin), has
been shown to be the cause of most cases of HGPS. Interestingly, this mutation induces the …