Hutchinson-Gilford Progeria

Hutchinson-Gilford Progeria, also known simply as progeria, is a type of progeroid syndrome. It 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].

The affected gene, known as lamin A, creates a protein necessary for keeping the cell nucleus together. When this gene mutates, an abnormal form of lamin A protein called progerin is produced. This mutated lamin A causes the 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.

In particular, researchers have developed a line of progeric mice that experience accelrated aging. These progeric mice are often used when testing interventions against aging in order to guide subsequent testing on regular aging mice. While some researchers believe progeric mice can provide useful information, others believe they are not useful as they dont reflect normal aging.