Ecuadorean patients with Laron Syndrome participated in research that… (Dr. Jaime Guevara-Aguirre )
A study published Wednesday in Science Translational Medicine described a group of people in Ecuador, descended from Spanish Jews who fled the Inquisition and converted to Christianity, who lack genes that help process human growth hormone in the body. The mutation they share results in very short stature -- they grow to only about 3 or 4 feet tall -- and high infant mortality.
But their bodies' inability to receive growth hormone also seems to protect this group from diabetes and cancer, the researchers reported -- adding that this suggested that for aging people with normal levels of hormonal activity, less and not more human growth hormone may be best.
Understanding the relationship between growth hormone, disease and aging could one day lead to the development of treatments to help people stave off common diseases of old age. But it may not do much to help the study subjects themselves.
"The most important thing for these patients is treatment of their children," said endocrinologist and study coauthor Jaime Guevara-Aguirre, who treats many of the Ecuadoreans in the study. He said that children with the disorder who get injections of the hormone IGF-1 can grow to 80% of normal size. That might help them lead more normal lives and avoid discrimination they face because of their short stature.
But Guevara-Aguirre has had trouble securing treatment for the kids from companies and the government, he said.
It's not the first time that a group with a high prevalence of a genetic disorder has been studied to develop interventions with wide applications -- and not seen much benefit themselves.
About 30 years ago, scientists conducted research that led to discovery of the gene that caused the degenerative brain disease Huntington's Disease, by looking at a group in a poor, remote area of Venezuela that suffered the disease in high numbers. The work also led to the development of a test for the disease, but the Venezuelan community still doesn't have ready access to the test.
There is no cure for Huntington's Disease. Guevara-Aguirre's patients, however, could benefit from treatment.
"It's really a disgrace," he said. "These guys are giving their blood; discoveries are important for the understanding of growth, cancer. What have they gotten in return?"
RELATED: The Los Angeles Times story about the study.