Imagine a 15-year-old who looks like a 50-year-old. Instead of healthy locks of hair tumbling down, his face is framed with thin, wispy gray hairs. Instead of a smooth and youthful face, his face is plagued with wrinkles. And instead of growing healthy and strong, his height is stunted.
Werner syndrome, a disorder that speeds up the process of aging and can lead to premature death, affects roughly one out of every 200,000 people in the United States. People suffering from Werner syndrome experience graying and loss of hair in their early twenties. These patients also develop detrimental conditions later in their lives, including cloudy lenses, skin ulcers, osteoporosis, and even atherosclerosis.
Specifically, the cause of Werner syndrome is a mutated Werner syndrome RecQ (WRN) gene that upsets the normal process of gene replication and repair.
Image Source: Portra Images
Researchers wanted to determine the mechanism by which the mutated WRN gene was able to disrupt regulatory cellular processes. In their study, scientists created a model of Werner syndrome. First, they deleted the WRN gene in human stem cells, which allowed them to observe the rapidly-aging cells in vitro and determine the cause of the aging. Upon further study, scientists discovered that the excision of the WRN gene disrupted the structure of the heterchromatin.
The WRN gene is responsible for maintaining the structure of DNA. However, the mutated WRN gene will also upset the normal structure of heterochromatin. Therefore, the study was able to directly identify the WRN protein as the cause of heterochromatin disorganization.
Although these experiments should be repeated to confirm these findings, scientists now see potential in this new discovery and believe that through gene-editing technology, the damage to the heterochromatin could be reduced or even reversed. Not only does this discovery apply to Werner syndrome, it also has a broad application to all age-related diseases.
Feature Image Source: Elders by Spyros Papaspyropoulos