CNN
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At the Los Angeles restaurant where Natalie Paola Castro Torres works, customers invariably comment on how short she is.
“People stare at me and make comments and jokes,” said Torres, 42. “A lot of times, they (surround) me.” “I hate my photos. I feel so bad.”
At 4 feet 2 inches tall, Torres is a “small person” who isn't used to such reactions. Growing up in Quito, Ecuador's capital, Torres rarely heard comments about her height. She worked at a car dealership, felt accepted in her community and saw her height as an advantage.
“I've seen my height as an opportunity since I was a teenager. “The issue of growth is part of my character,” Torres told CNN in Spanish.
“In fact, I am very lucky because my body protects me from diseases that other people suffer from every day,” she added. “My height is both a limitation and a blessing.”
Sandra Torres
Natalie Paola Castro Torres, 42, has Laron syndrome, which means she is short but protects her from serious illnesses.
Torres has Laron Syndrome, a rare disease caused by a genetic mutation that stunts her growth. But there's a hidden benefit: Her body is protected from chronic diseases like cancer that often take her life long before old age.
“What would Natalie's mockers say if they knew that her body might teach them how to live a longer, disease-free life in the future?” says Valter Longo, a professor of gerontology and biological sciences at the University of Southern California in Los Angeles.
“Studies have shown that people with Laron syndrome have very low rates of cancer, diabetes and cognitive decline,” says Longo, who has studied Laron syndrome for nearly 20 years. “Brain scans show that their brains are youthful, the same as someone 20 years younger. I have yet to see a case of Alzheimer's disease in this population.”
And new research published Friday in the medical journal Med suggests Torres and others with the condition may also be protected from heart disease, Longo said.
“It's not that they're immune to these diseases, but people with Laron syndrome certainly seem to be very protected,” added co-author Longo. According to the latest research, “this mutation appears to be that potent.”
The first cases of dwarfism that seem to be a symptom of the condition were identified in Israel in 1958 among children of Jewish immigrants from Yemen and other parts of the Middle East. Today, there are between 350 and 500 people with Laron syndrome in the United States, Ecuador, Israel, Croatia, Ireland and other European countries, Longo said.
In 1987, Dr. Jaime Guevara Aguirre, a young physician just beginning his career, discovered a cluster of about 100 people with Laron syndrome scattered across rural Ecuador. Dr. Guevara Aguirre, first author of the new report, is founder of the Institute of Endocrinology, Metabolism and Reproduction in Quito.
In Guevara-Aguirre's research, these people all had a mutation in the human growth hormone receptor gene that prevented the body from using a hormone called insulin-like growth factor-1 (IGF-1), which is primarily produced in the liver. Growth hormone and IGF-1 work together to promote healthy bone and tissue growth, so a deficiency of IGF-1 stunts growth.
People with Laronism have IGF-1 in their tissues, which is used to aid in wound healing and other bodily functions, but unlike the rest of us, these people have very little of the hormone circulating in their bloodstream, which has adverse effects. It wreaks havoc and accelerates aging.
Fortunately, a lack of circulating IGF-1 It also prevents the uncontrolled growth of cancer cells and increases sensitivity to insulin, preventing diabetes.
Professor Longo
Laron syndrome is a recessive gene, so only people who receive a copy from both parents are affected.
In 2005, Guevara Aguirre contacted Longo, who was researching similar mutations that extended the lifespan of yeast cells.
“In addition to yeast cells, worms, flies and mice with similar mutations all live extremely long lives,” Longo says. “Mice with the same mutations we study in humans hold the record for longevity: they live 40 percent longer than mice without the mutation, and 50 percent of them don't develop any pathology. In other words, they live longer, healthier lives.”
Longo said the two began working together in the hope that they might be able to identify drugs that could reduce circulating IGF-1 in the general population and potentially provide anti-aging or disease-prevention benefits.
“People with high blood levels of IGF-1 would be put on medication to lower IGF-1 to the range that has the lowest mortality risk, just like you would take a medication for high cholesterol,” Longo said.
Longo also said that a Western diet high in protein and sugar increases blood levels of IGF-1, which accelerates ageing.
“Dietary interventions that lower IGF-1 include fasting for five days a month, which is called a fasting-mimicking diet,” he says. “We've published research. As a result, we found that after the experiment, blood IGF-1 levels remained low for some time.
Dr. Guevara Aguirre and Dr. Longo are also seeking funding to give IGF-1-boosting injections to children born with Laron syndrome in Ecuador, so that the drug, given to them in infancy to increase their height, can then be discontinued, allowing the genetic defense against the mutation-causing disease to take effect.
“Right now, the (Ecuadorian) government and pharmaceutical companies won't cover the costs,” Longo said. “We have to work slowly with diet, but we're having some success.”
Laron syndrome also comes with health risks: The condition can lead to extreme obesity, which can trigger diabetes, heart disease, cancer and other diseases. And many of the people Longo studies are “totally sedentary,” drink alcohol, smoke and live in disadvantaged areas with limited access to medical care, he said.
But instead of dying from chronic diseases related to obesity, deaths from alcohol, accidents and seizure disorders are disproportionately high among Lalong residents, he said.
And because studies have shown that lower IGF-1 levels in people who don't carry the mutation are associated with a higher risk of cardiovascular disease, “everyone would have thought that people with the Laron gene would also have a lot of heart and cardiovascular disease, especially when you take obesity into account,” he added.
To find the answer, Longo and Guevara Aguirre tested Torres and 23 other people with Laron syndrome and compared them with 27 of their first-degree relatives who do not have the disease, most of whom live in Ecuador.
“We found that despite the fact that patients with Laron syndrome are more likely to be obese and live in poor conditions, they do not have a higher incidence of cardiovascular disease and even have improved measures of some of the cardiovascular disease indicators,” Longo said.
Study participants who received Laron had better insulin sensitivity, lower blood pressure and no irregular heart rhythms — all positive results, he said.
Additionally, only 7 percent of people with Laron syndrome had plaque deposits in their arteries, despite having high cholesterol, which typically leads to clogged arteries and an increased risk of heart attack, stroke, and other heart diseases.
A control group of first-degree relatives who shared the same diet and lifestyle had 30 percent plaque buildup, Longo said.
But the study found no signs of further cardiovascular wear and tear, leaving some questions unanswered, said Dr. Andrew Freeman, director of cardiovascular prevention and wellness at National Jewish Health in Denver.
“But I think this is an interesting and promising study,” said Freeman, who was not involved in the study. “What we learn from this will provide a foundation for knowing how we can reduce the harms that affect people as they age.”
Torres recently went to the doctor for a checkup and, although he is technically overweight at 100 pounds, (45.4 kg) She was in good health and showed no signs of diabetes or heart disease.
“(My doctor) told me, 'You can lose weight if you want, but it's not a health issue, you're perfect,'” Torres said. “I feel very lucky and it's very interesting to see how my body responds to these more serious illnesses.”
She plans to stay in the U.S. to take advantage of educational opportunities and see if she can get “a better job, a better career opportunity,” but she said she misses her family and the ease of buying fresh fruits and vegetables that are abundant in Ecuador.
“I've learned that even though my body is somewhat adaptable, I still need to be careful about what I eat,” she says, “because while we may have some health advantages over others, we're not sure how much protection it provides.”
She also Studies on Laron syndrome.
“The goal is to develop some kind of medical aid to help the rest of the people battling two of the most devastating diseases: diabetes and cancer,” she said. “That's my hope.”
