The enigma of the rare genetic mutation that protects against cancer and heart attacks
The study of Ecuadorian families with a rare disease known as Laron Syndrome has just shown that a genetic mutation protects them from cardiovascular diseases. Researchers believe that it is possible to search for a drug or a diet that mimics these beneficial effects in order to combat diseases associated with aging, such as cancer, in the general population.
In 1987, Ecuadorian endocrinologist Jaime Guevara-Aguirre began treating people with Laron Syndrome who lived in isolated towns in the provinces of Loja and El Oro, in the south of the country, near the border with Peru. The disease is characterized by a mutation in the growth hormone receptor gene that causes short stature. People with this condition do not exceed 1.5 meters (4 ft 10 in) in height. The cause is a mutation of a single biochemical letter — a G instead of an A — in the very long sequence of three billion letters that makes up the human genome. In these communities in Ecuador, endogamy is common, which has favored the spread of the syndrome. Even today, the inhabitants of these municipalities continue to have children without knowing if they will be born with Laron or not. In the family photos, affected parents are seen with their children of about 10 years of age, who are already taller than them.
In a teleconference from Quito, Guevara-Aguirre apologizes ahead of time in case communication is interrupted due to the blackouts that have been afflicting the country, which has been plunged into a spiral of violence and instability. “In 1987 it took two days to get to these towns in my father’s 4x4, and to get to some of them you had to walk two or three more hours. It was a very remote area, but the patients were fascinating,” recalls Guevara-Aguirre, of San Francisco de Quito University. Since then, he has diagnosed about 100 affected people, approximately a third of all known cases in the world.
