Dr. Alan Waldman, professor in the Department, was awarded a two year R03 grant for $149,000 from the National Institute on aging to conduct a project entitled "Lamin A and the Fidelity of DNA Double-Strand Break Repair”!

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare, fatal autosomal dominant genetic condition characterized by accelerated aging in children. It has been known for some time that the syndrome is most commonly caused by a specific point mutation in the LMNA gene that codes for lamin A. Lamin A normally serves as an important component of the nuclear lamina, a structure that provides mechanical support for the nucleus and regulates several critical cellular processes including a number of DNA repair pathways. The LMNA mutation commonly associated with HGPS leads to the production of a truncated form of lamin A referred to as "progerin."   In HGPS, progerin expression leads to an accumulation of DNA double- strand breaks (DSBs). The effect that expression of progerin or other mutated forms of lamin A has on the precise manner in which a DSB is repaired in the human genome has however never been investigated in detail. The proposed studies aim at comparing DSB repair events in normal cells versus cells that overexpress progerin or express a related variant form of lamin A.