Hutchinson Gilford Progeria Syndrome (HGPS) is a devastating premature aging disease caused by a mutant protein called “progerin” that is responsible for the overall cellular toxicity and organismal decline. HGPS patients die due to cardiovascular problems at an average age of 14 years. Autopsies show abnormal blood vessels (arteries). Arteries are mainly formed by vascular smooth muscle cells (VSMCs), which are critical for vessel contraction and blood flow. HGPS patients have vessels with very few VSMCs, leading to vascular stiffness. Understanding the loss of VSMCs might be crucial to find a cure.
In our group we have found that progerin has a strong effect hindering DNA replication, causing DNA damage/genomic instability. Currently I am aiming to elucidate the crosstalk between DNA damage and repair with progerin-induced vascular disease.
Given that progerin also accumulates in the vessels of patients in normal aging individuals, my findings could have a more general application to cardiovascular disease other than HGPS, my results may provide keys for treating millions of adults with cardiovascular problems associated with the natural aging process.