An international team of experts has identified amutation in the gene that regulates growth hormone, responsible for the short stature of a group of people in an Ecuadorian population, whichprevents the development of cancer and diabetes, as well as various problems associated with aging.
For the research, the scientists, among whom is Alejandro Martín-Montalvo from the Andalusian Center for Development Biology (CSIC-UPO), have closely followed the evolution of a group of99 Ecuadoriansfrom an area near Los Andeswho suffer from Laron Syndrome, a congenital disease that causes dwarfism.
? We demonstrate how cells from individuals that carry the mutation in the gene that encodes the growth hormone receptoractivate a process of controlled cell death, or apoptosis, when faced with stressful situations. This increased apoptosis results in aless accumulation of DNA damage in cells. In this way, the ability of these cells to enter into transformation processes that give rise to cancer is limited ?, explains Martín-Montalvo, co-author of the study published in the latest issue of the journalScience Translational Medicine. The results could helpdesign therapies that decrease the incidence of cancer and diabetes.
In 1987, the Ecuadorian doctor Jaime Guevara-Aguirre discovered concentrations of people in the Andean area who suffered from a deficiency in a gene that caused dwarfism. But it was not until 1996 that Zvi Laron, an Israeli pediatrician and endocrinologist, described this inherited endocrinological disease, characterized bydwarfismo (dwarfism with well proportioned limbs), peculiar facial features and high plasma levels of growth hormone. Since then, the ailment has been known asLaron dwarfism.
