BBC Future Correspondent Talks About Families faced with an inexplicable illness of their children, and about the scientist, who hopes to find a clue to immortality.
Richard Walker started fighting aging as a 26-year-old American hippies. It was in the 1960s when the ball ruled youth: a time of protests against the Vietnam War, psychedelic drugs and sexual revolution. Young Walker tormented by the realization that aging will take away sooner or later his vitality. One evening, leaving for a ride in his convertible, Richard promised himself that he would find a way not to age – until of how he will turn 40 years old.
Walker became a scientist to understand why he is mortal. “Of course, the reason was not original sin and God’s punishment, as taught me according to the catechism of a nun, ”he said. – No, it’s about the result of a biological process, which means it controls some mechanism that we can understand. ”
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Scientists have published several hundred theories on aging, linking it with a variety of biological processes. However, no one was able to put together all this disparate information.
Walker is now 74 years old and he believes that teach us research on the causes of rare can stop aging a disease known as “Syndrome X.” He found four girls with this disease, which is characterized by a permanent condition infancy, a halt in development. In his opinion, the reason The disease has become a genetic failure. Finding it means come close to the clue to immortality, Richard is sure.
Will not be cured
In 2004, when Mary Margrethe Williams started a fight, and together with her husband John they went to the hospital, nothing foreshadowed troubles. Their daughter Gabriela was born weak and cyanotic. IN doctors managed to stabilize the neonatal intensive care unit her condition, after which a whole series of analyzes began.
A few days later, Williams already knew that genetic the lottery was unfavorable to Gabby. Frontal lobe of her head the brain was smooth, there were no furrows and convolutions, inside which neurons are compactly located. Her optic nerve connecting the eyes and the brain, was atrophied – it promised the girl blindness. In addition, she had two heart defects, and her tiny it was impossible to open the fists. Cleft palate and violation swallowing reflex meant that Gabby had to be fed through a tube in the nose. “They started to prepare us for the fact that she’s with us home, probably won’t go, “says John. A family priest came to the hospital to baptize a girl.
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Every day, Mary Margrethe and John were torn between the hospital, where Gabby lay, and the house where her older sister was waiting for them – 13-month-old Sofia. Tests for known genetic syndromes have been given to doctors. negative result. No one knew what the girl was expecting. The Catholic family of Gabby could only rely on God. “Mary Margrethe kept repeating that Gabby would come home,” recalls her sister Jenny Hansen. And after 40 days she really went home.
Gabby often cried, loved to be picked up, and ate every three hours – like an ordinary baby. Of which she, of course, was not. Parents constantly drove her to specialists – to cardiologist, gastroenterologist, genetics, neurologist, ophthalmologist and orthopedist. All experts said the same thing: nothing is impossible to do.
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Gabby had hair and nails, but she herself did not grow. Her development It happened almost imperceptibly, at its own special pace. Mary Margrethe clearly remembers the day she drove Gabby in a stroller along the corridor with skylights. She looked at the girl and with amazed to find that Gabby’s eyes react to sunlight – that is, she is still not blind.
Despite the difficulties, the couple decided that they wanted to have more children. In 2007 they had Anthony born, and on next year Alina appeared. Williams stopped by now to carry Gabby to doctors, taking for himself as a fact: a girl never will not be cured. “At some point, we just decided,” recalls John, – that it’s time to put up. “Later, two more children were born in the family.
Deadly questions
When Walker began his scientific career, a model of “pure aging” the female reproductive system became for him: even in the absence diseases female ovaries gradually cease to function with the onset of menopause. He explored how nutrition, light, hormones and brain chemistry affect rat fertility. However fundamental science is the destiny of those who are in no hurry. To Richard could not find a cure for aging to 40 years, or even 50 or 60. His life’s work did little to help answer the question of why we are mortal. Time worked against the scientist.
It only remained to start from scratch. As Walker writes in his book called “Why are we getting old”, he started a series of mental experiments on known and unknown facts about aging.
Aging is usually defined as gradually accumulating. damage to cells, organs and tissues, predetermining physical changes that are characteristic of older people. And what, I thought Walker, if cell damage is a result of aging, not its root cause?
This idea matured in the scientist’s head until October 23, 2005. In the evening he worked in his home office when his wife called him into the living room. She thought that Richard would be interested in a TV show about a girl, which seemed to be stuck in time. Brooke Greenberg was 12 years old, however, she weighed only 6 kg and her height was only 69 cm. Doctors watching her have never encountered such disease and believed that the reason lies in random genetic mutation. “Brooke is a true source of eternal youth,” – said her father Howard Greenberg.
Walker was intrigued. He heard about other genetic diseases, including Gatchinson-Guildford disease and syndrome Werner causing premature aging in children and adults respectively. However, this girl had a genetic disease, stopped its development and with it, as Walker suspected, aging process. In other words, Brooke Greenberg could help him check the theory formulated earlier.
Uneven development
Brooke was born a few weeks ahead of schedule, with numerous congenital malformations. The pediatrician called her condition “Syndrome X” because he could not understand what he had a business.
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After the TV show, Walker found Howard’s home address. Greenberg. Two weeks later, the scientist received an answer, and after long discussions he was allowed to work with Brooke.
Walker’s analysis showed that Brooke’s organs and tissues evolved with at different speeds. Her mental development, according to standardized tests, corresponding to the age of 1-8 months. Her teeth were like those of an eight-year-old, and her bones were like ten year old. Gone infant fat reserves, hair and nails grew normally, but she did not reach puberty.
All this testified to “inconsistent development,” in Walker terminology. Brooke’s body, he said, did not develop as a whole, but as a set of separate elements, not coordinated among themselves. “She’s not completely” stuck in time, “wrote Walker.” Its development continues, although inconsistent. ”
Aging, in his opinion, occurs because the human development involves constant change. From birth to puberty changes are vital: thanks to them we grow and mature. However, from the moment we matured, our bodies do not need changes – rather, maintaining them in current state. “If you built a perfect home, it’s the moment when you should stop laying bricks “, – explains Walker.
Brooke was not like everyone else: it seems she was born with a “built-in” change switch, and it was originally turned off. However, finding the genetic cause of this was not easy. Walker had to be completely decrypted by the Brooke genome.
This was not destined to happen. To the greatest disappointment Walker, Howard Greenberg abruptly cut off all contact with him. A family Greenbergs did not publicly announce the reasons that prompted them stop working with Walker, and declined to comment for this article.
One more chance
In August 2009, Mary-Margret Williams saw a photograph of Brooke. on the cover of People magazine, titled “Heartbreaking Mystery: 16-year-old baby. “She thought that Brooke’s story was in many ways looks like Gabby, so she contacted Walker.
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Looking at Gabby’s data, Walker shared his the theory. According to him, the girl’s genetic testing could help him defeat the diseases associated with aging – well, perhaps aging itself.
For several months, John and Mary Margaret weighed everything “pros and cons”. They had no illusions about research Walker – they were more interested in why Gabby was born so. Spouses Williams were firmly convinced that God sent them Gabby some reason. Participation in the work of the scientist gave them some consolation, because in this way the chances of finding a cure for Alzheimer’s disease and other age-related diseases.
By agreeing to participate in Walker’s research, Williams as earlier Greenbergs gained fame. However, the life of Gabby is local celebrities have changed little. The girl is constantly surrounded by members of her big family. Usually it lies on the floor or on one of the special pillows designed to prevent her spine from bent with the letter “C”. She makes sounds that would make get a stranger nervous: mumbling, sucking in air noisily, gritting his teeth. Her brothers and sisters do not pay attention to this.
Together with geneticists from Duke University, Walker checked the genomes of Gabby, John, and Mary Margret. They studied exom – sequences encoding protein molecules and constituting 1-2% genome. Comparing the exoms of all three, the researchers concluded that Gabby did not inherit any exom mutations from her parents – and, therefore, her brothers and sisters are unlikely to be able to pass her disease to your children. “Great relief – just colossal, “recalls Mary Margrethe.
However, exom testing did not give scientists any information about the causes of the disease of the girl. The genome of each of us contains mutations. Based on the genetic material of one person it is impossible to understand whether a particular mutation is dangerous – for this you must compare at least two people with the same a problem.
Luckily for Walker, his popularity in the media helped him find two other girls who he believes suffer similarly a disease. Curious is the fact that all known cases of “Syndrome X” fall on girls. This may mean that the desired mutation occurs on the X chromosome – or maybe just a coincidence.
Walker partnered with a commercial organization in California with by which he plans to compare the complete genomic sequences of all three girls – exom and the remaining 98% DNA codes that are thought to control gene expression, encoding a protein molecule.
Most researchers agree that the search for genes, responsible for the occurrence of “Syndrome X”, justified because these genes will surely help us learn more about development person. However, they are not at all sure that the disease girls are directly related to aging – as well as the fact that they suffer from one disease. But even if it is, and even if scientists led by Walker will be able to establish a genetic cause diseases, it will take a long time before people have the opportunity to take advantage of their discovery.
End of life
On October 24, 2013, Brooke died at the age of 20. Mary margrethe This was reported by a friend who read about the girl’s death in a magazine. The news was a shock for the woman. “Although we have never met her family, they literally became part of our lives, “says she.
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Gabby is doing well. Mary Margrethe and John stopped plan her funeral and started thinking about what would happen if the girl will outlive her parents. They don’t need a magic pill from old age, they are looking forward to its arrival with interest, because these are new joys, new difficulties … And new opportunities to understand something about this of life.
Richard Walker’s idea of old age is, of course, completely otherwise. When asked why he is so tormented by the idea of aging, he explains: in childhood, he was sad to observe the physical and psychological degradation of grandparents. “I am completely not pleased elderly people leading a sedentary lifestyle, rocking chairs and stuffy houses with old-fashioned decorations, “says the scientist.
If his hypothesis is true – who knows, maybe one day she help prevent disease and lengthen the lives of millions of people. However, Walker understands too well that he will already help himself not in time. As he writes in his book: “I feel a little Moses, who wandered the wilderness for most of his life, and then he could see the Promised Land, but never got into it. ”
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