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Study Confirms Progeria is True Aging


(eurekalert.org) - Study validates Hutchinson-Gilford Progeria syndrome as a true representation of aging

Washington, D.C. (January 27, 2015) -- In a new research study, scientists from Vision Genomics, LLC, Insilico Medicine, Inc., and Howard University showed that Hutchinson-Gilford Progeria Syndrome (HGPS or Progeria) is comparable to normal aging with respect to cellular signaling pathways, and that HGPS truly recapitulates the normal aging process. This study was accomplished by the analysis of microarray gene expression datasets of fibroblasts from normal individuals (young and aging) and HGPS patients using a newly-developed pathway analysis and drug discovery tool named 'GeroScopeTM'.

HGPS is an accelerated aging disease typically caused by a de novo mutation leading to autosomal dominant single base substitution in the Lamin A gene. The expression of this mutated Lamin A gene results in a truncated protein known as 'Progerin'. In HGPS there is an excessive accumulation of Progerin that is toxic to cells, causing DNA damage and genomic instability. Since normal lamins also participate as relays for intracellular signaling pathways in the nucleus, as well as interact with chromatin, its mutated version, Progerin can have serious implications in normal aging and disease.

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