Eternal youth: a rare disease can help stop aging

A rare syndrome has been discovered that makes the human body timeless. Scientists hope that this disease will help find the key to immortality, reports CNN.

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Richard Walker has dreamed of overcoming aging since his youth. He was from the generation of hippies, whose youth fell on the 60s of the last century.

These were the days of the young: protests against the Vietnam War, psychedelic drugs and the sexual revolution. Walker enjoyed life, but he was haunted by the thought that aging would sooner or later take away his vitality.

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One evening, after leaving for a ride in his convertible, Richard promised himself that by his 40th birthday he would invent a way to stop aging.

To understand why we are mortal, Walker turned to science.

“Of course, the reason was not original sin or God’s punishment, as the nuns taught me in the catechism,” he says. “Aging is the result of a biological process, and therefore we are able to understand its mechanism.”

Although hundreds of scientific studies have been devoted to the problem of aging, linking it to various biological processes, no one has ever brought together all this disparate information.

Now 74 years old, Walker is confident that studying a rare disease known as “syndrome X” will help us stop aging.

He found four girls with a disease preventing the body from developing, leaving it in a permanent state of childhood.

In his opinion, the cause of the disease is a genetic failure. If we manage to understand its causes, we will be able to come close to unraveling immortality, Richard is sure.

In 2004, when Mary-Margret Williams went into labor and went to the hospital with her husband John, nothing foreshadowed trouble.

An ultrasound showed that the child has a slight curvature of the feet, but so did their first daughter Sophia, who had no other health problems.

When Gabby was born, the parents were shocked: the child was weak and bluish. In the intensive care unit for the newborn, doctors managed to stabilize her condition, after which a series of tests began.

A few days later, the Williamses already knew that in the genetic lottery, Gabby pulled out an unlucky ticket. The frontal lobe of her brain was smooth and lacked the furrows and convolutions that contain neurons.

The girl also had an atrophied optic nerve that connects the eyes and the brain, which meant blindness. She had two heart defects, and her tiny fists could not be unclenched.

The cleft palate and impaired swallowing reflex meant that Gabby would have to feed through a tube in her nose.

“They started to prepare us for the fact that she probably wouldn’t go home with us,” says John. The family priest came to the hospital to baptize the girl.

Every day, Mary-Margret and John were torn between the hospital where Gabby was, and 13-month-old Sophia at home.

Tests for genetic syndromes known to doctors gave a negative result. No one knew what awaited the girl. The Catholic family could only hope in God.

“Mary Margret kept saying that Gabby would come home,” recalls her sister Jenny Hansen. And after 40 days it happened.

Gabby cried a lot, loved to be picked up, and ate every three hours just like a normal baby. What she, however, was not.

Her parents constantly took her to specialists - to a cardiologist, gastroenterologist, geneticist, neurologist, ophthalmologist and orthopedist.

All the experts said the same thing: nothing can be done.

Gabby grew hair and nails, but she herself did not grow. Its development took place almost imperceptibly, at its own special pace. Despite the hardships they endured, the couple decided that they wanted to have more children. In 2007, Anthony was born to them, and Alina appeared the following year.

The Williamses stopped dragging Gabby to the doctors, resigned to the fact that the girl could not be cured.

Deadly Questions

When Walker began his scientific career, the female reproductive system became his model for “pure aging.”

Even in the absence of disease, the female ovaries gradually cease to function with age and menopause occurs.

He investigated how nutrition, light, hormones, and chemicals in the brain affect the fertility of rats. However, fundamental science is a slow business.

Richard couldn't find a cure for aging before 40, or even before 50 or 60. The work of his life did not answer the question why we are mortal. Time was not in favor of the scientist.

Then Walker decided to start over from scratch. As he writes in his book called Why We Age, he began a series of thought experiments to bring together all the known and unknown facts about aging.

Aging is usually defined as the gradual accumulation of damage in cells, organs, and tissues that causes characteristic physical changes in older people.
And that, as Walker thought, cell damage is the result of aging and not its cause?

While this thought was brewing in the mind of a scientist, one evening he watched a TV show about a girl supposedly stuck in time.

Brooke Greenberg was 12 years old, but she weighed only 6 kg, and her height was 69 cm.

The doctors who observed the girl had never encountered such a disease and believed that the cause was a random genetic mutation.

“Brooke is truly the fountain of eternal youth,” said her father, Howard Greenberg.

Walker was interested in this story. He had heard of other genetic diseases, such as Hutchinson-Gilford disease and Werner's syndrome, which cause premature aging in children or adults.

However, this girl had a genetic disease that stopped her development and, as Walker suggested, the aging process.
In other words, Brooke Greenberg was the right person to help him test his theory of uneven development.

Brooke was born several weeks premature with multiple birth defects. The pediatrician called her condition “syndrome X” because he couldn’t figure out what he was dealing with.

Uneven development

Walker's analysis showed that Brooke's organs and tissues developed at different rates. Her mental development, according to standard tests, corresponded to the age of 1-8 months. Her teeth were like those of an eight-year-old child, and her bones were like those of a ten-year-old.

Her childhood fat stores disappeared, her hair and nails grew normally, but she did not reach puberty.

The scientist called this condition “uncoordinated development.” Brooke's body, he said, developed not as a single whole, but as a set of individual elements that were not coordinated with each other.

“That she is 'stuck in time' is not entirely accurate,” Walker wrote. “Its development continues, although it is not agreed upon.”

Aging, in his opinion, occurs because human development involves constant change. From birth to puberty, these changes are vital.

However, from the moment a person has matured, his body no longer needs changes - only support in its current state. “If you've built the perfect house, there comes a point when you don't need to lay brick anymore,” explains Walker.

Brooke was different; she seemed to have been born with a built-in switch for change. However, identifying a genetic cause is not easy. Walker had to sequence Brooke's entire genome.
However, he was not destined to do so. To Walker's great dismay, Howard Greenberg cut off all contact with him.

The Greenberg family never publicly explained why they ended their collaboration with the researcher.

One more chance

In August 2009, Mary-Margret Williams saw Brooke's photo on the cover of People magazine, with the headline "Terrible Mystery: 16-Year-Old Baby" underneath it. Brooke's story reminded her of Gabby, and the woman contacted Walker.

After looking at Gabby's tests, Walker shared his theory with her mother. According to him, genetic testing of the girl helped him overcome the diseases associated with aging - and, perhaps, aging itself.

For several months, John and Mary Margaret weighed the pros and cons. They were under no illusion that Walker's research would make a difference to Gabby's condition, but they were interested in why the girl was born this way.

The Williams were convinced that God sent Gabby to them for a reason.

Participation in the work of a scientist gave them some comfort, because in this way the chances of finding a cure for Alzheimer's and other age-related diseases increased.

Together with geneticists from Duke University, Walker tested the genomes of Gabby, John and Mary-Margret. They studied the exome sequences that encode protein molecules and make up 1-2% of the genome.

By comparing the exomes of all three, the researchers concluded that Gabby did not inherit any exome mutations from her parents, meaning that her siblings are unlikely to be able to pass on her diseases to their children.

“It was a huge relief – just enormous,” recalls Mary-Margret.

However, checking the exome did not give scientists any information about the causes of the girl's illness.
The genome of each of us contains mutations. Based on the genetic material of one person, it is impossible to understand whether this or that mutation is dangerous - for this it is necessary to compare the genomes of at least two people with the same problem.

Fortunately for Walker, his popularity in the media helped him find two other girls who he believes suffer from a similar condition. An interesting fact is that all known cases of “syndrome X” occur in girls. This could mean that the mutation scientists are looking for occurs on the X chromosome, or maybe it's just a coincidence.

Walker is collaborating with a commercial organization in California, with which he plans to compare the complete genomic sequences of all three girls - exomes and the rest of the 98% of the DNA code that controls the expression of genes that code for protein molecules.

Most researchers agree that the search for genes responsible for the occurrence of “syndrome X” is justified, since these genes will undoubtedly help us learn more about human development.

However, they are not at all sure that the disease of girls is directly related to aging, as well as that they suffer from one disease. But even if this is true, and even if scientists led by Walker can establish the genetic cause of the disease, it will be a long time before people have the opportunity to take advantage of their discovery.

End of life

On October 24, 2013, Brooke passed away at the age of 20. Mary-Margret told a friend about this, who read about the girl's death in a magazine. The news came as a shock to the woman. “Even though we never met her family, they literally became a part of our lives,” she says.

Gabby is doing well. Mary-Margret and John stopped planning her funeral and began to think about what would happen if the girl outlived her parents.

They don’t need a magic pill against old age, they are waiting for its arrival with interest, because these are new joys, new difficulties... And new opportunities to understand something about this life.
Richard Walker's views on old age are very different.

Asked why the idea of ​​aging torments him so much, he explains that as a child he was sad to see the physical and psychological degradation of his grandparents.

“Older people sitting in their stuffy old-fashioned houses seemed completely unattractive to me,” says the scientist.

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If his hypothesis is correct, who knows, perhaps one day it will help prevent diseases and prolong the lives of millions of people.

However, Walker is well aware that this will no longer affect him.

As he writes in his book: “I feel a little like Moses, who wandered in the desert most of his life and then saw the Promised Land but never got there.”

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