Ecuadorians with rare genetic condition could be key to cancer prevention medicine
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Ecuadorians with rare genetic condition could be key to cancer prevention medicine

A group of Ecuadorians suffering from an illness which stunts growth could hold the key to preventing major diseases such as cancer.

In a remote village of Ecuador,  researchers have been studying 100 people with Laron Syndrome – a rare genetic condition which limits growth to about four feet, but also appears to protect those with the disorder from suffering from diseases like diabetes and cancer.

Dr Jaime Guevara-Aguirre, an endocrinologist,  is one of the scientists leading the research to understand how these villagers’ genes could one day lead to the development of  preventative medicine. Having studied Laron Syndrome for 30 years, Dr Guevara-Aguirre told  NBC News that “there’s only one patient that has died of cancer among all of the subjects. And that is fascinating.”

Without treatment, a person born with Laron Syndrome will likely grow no taller than four feet. Merci Valarezo, 50, one of the villagers and a participant in the study, is just three and a half feet tall, and as she weighs 127 pounds, Valarezo is classed as morbidly obese. Researchers, however, have observed that Valarezo is in fact a picture of health, and that although she eats foods high in fat and carbohydrates, her blood pressure is “perfect”.

Cutting-edge study

Once ashamed of her height, Valarezo told NBC News how she used to hate leaving her house and would often cry because she did not want anyone to see her. “One day, I hid behind my sister-in-law so no one would see me,” she said.  However, she also revealed that now she feels proud because she is participating in a cutting-edge study.

The study’s two objectives are to discover how to extract the Laron Syndrome’s anti-disease properties and make them into a medication that could fight major diseases, and to create a treatment which would enable people with the syndrome to grow to full size.

Researchers have found that a person with Laron Syndrome has a defect in their growth hormone receptor, which means the receptor does not bind to the growth hormone, and fails to produce a substance called insulin-like growth factor 1 (IGF-1).  The stunted growth of a person with the syndrome occurs because of the lack of IGF-1, and the fact that the receptor fails to bind to the growth hormone. However, it is the absence of IGF-1 that researchers believe may create a sensitivity to insulin that helps protect against diabetes, and may also prevent cells mutating into cancer.

Speaking to NBC News, Dr Valter Longo, a longevity specialist at the University of Southern California, said that the lack of IGF-1 prevents cells turning cancerous. In a study which involved duplicating Laron Syndrome in mice in laboratory conditions, Longo observed that the animals lived 50 percent longer, and were less likely to get disease. He said, however,  that it will take another 10 years before science can be sure whether or not a manufactured drug could block IGF-1 and prevent disease in humans.

Laron Syndrome, discovered in the late 1950s by Israeli endocrinologist Zvi Laron, is an extremely rare condition. Just 350 people in the world who have it, and they are all descendants of one person who was born with the mutated gene thousands of years ago.

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