A rare disease characterized by premature aging is modeled after a group of Spanish scientists to better understand the relationship between cancer, genes and aging. This is Werner syndrome, an inherited disorder characterized by premature aging of the individual, genomic instability and an increased incidence of tumors. The study was conducted jointly by researchers at the Hospital Clinic of Barcelona, Biomedical Research Center of Navarre, the National Institute on Aging U.S., and the group of Manel Esteller of the CNIO.

Aging is the major risk factor for tumor development and yet, until recently not well known the molecular reasons for this relationship, it was logical to assume that inactivation of a gene that prevents aging (such as causing Werner’s syndrome) could have a role in the development of cancer. According to the study, the loss of activity of this gene by methylation of their regulatory region, has been detected in various tumor types, including soft and solid, and being the first tumor suppressor gene with such wide distribution.

The function of this gene is to protect cells from injury, through its helicase and exonuclease activity that promotes DNA repair. However, its inactivation by methylation causes the onset of chromosome fragmentation and development of genomic instability prior to tumor development. The reintroduction of the defective gene in a cell-tumor properties in laboratory cell cultures and in mouse models, opening the door to improved treatment of certain tumors, based on the understanding of these interactions.