Hutchinson-Gilford Progeria Syndrome

Hutchinson-Gilford progeria syndrome, also known simply as progeria, is a disease characterized by premature aging. Patients with progeria develop many of the same conditions that normally occur late in life, including wrinkles, hair loss, atherosclerosis, kidney failure, and musculoskeletal frailty [1]. Typically, these patients only live into their early teens to early twenties, with stroke and heart attack being the most frequent causes of death. It is an extremely rare disease, occurring in only 1 of 18 million children [2].

Progeria can be caused by a genetic mutation to a number of genes related to the lamin A protein. The inability of the body to produce lamin A causes cell nuclei to have an abnormal morphology and DNA to be disorganized. Cells also lose their ability to repair DNA [3]. Many patients also produce an abnormal variant of the lamin A protein called progerin, which can also be produced by senescent cells [4].

In addition to searching for a cure, scientists are very interested in progeria (and other similar diseases such as Werner and Cockayne syndromes) for the clues that it may provide about typical aging.

Literature

[1] Olive, M., et al. Cardiovascular pathology in Hutchinson-Gilford Progeria: Correlation with the vascular pathology of aging. Arteriosclerosis, Thrombosis, and Vascular Biology (2010). https://doi.org/10.1161%2FATVBAHA.110.209460

[2] https://rarediseases.org/rare-diseases/hutchinson-gilford-progeria/

[3] Arancio, W. et al. Epigenetic Involvement in Hutchinson-Gilford Progeria Syndrome: A Mini-Review. Gerontology (2014). https://doi.org/10.1159%2F000357206

[4] Harhouri, K. et al. An overview of treatment strategies for Hutchinson-Gilford Progeria syndrome. Nucleus (2018). https://doi.org/10.1080/19491034.2018.1460045