In September 2006, sensational news spread around the world: in the Chinese city of Panjing, Laoning province, there lives a girl named Yanyang, who was only 12 years old, but her skin was like that of an eighty-year-old grandmother, and her forehead was full of wrinkles.
A disease from which no one has been cured yet
According to the Chinese media, Yanyang's height (pseudonym) is small - only 1 m, while her legs are 60 cm long, her body length is 30 cm, and her head and neck are only 10 cm. She is very thin, her eyes are sunken, her fingers are thin, like sticks. When her mother leaves the house with her, people around them look at the girl with curiosity, which makes her mother unpleasant.
Yanyang's mother says that on March 8, 1994, when the girl was born, she did not notice any deviations in her. Only when she was one year old, it became noticeable that Yanyang had a very small head, moreover, her peers could already stand, but she could not.
When the girl was 6 years old, wrinkles on her face began to appear, at the age of 7 her teeth changed, and now almost all of them have fallen out from old age.
In 2006, Yanyang developed a symptom of aversion to food, every day she drinks only one packet of kefir, and eats a maximum of two spoons. Its weight dropped from 11 kg to 9.5 kg. Previously, she could walk on her own, leaning against the wall, but now she is not even able to stand.
Progeria, or Hutchinson-Guildford syndrome - this is the name of this terrible disease, from which no one has yet been cured. And he did not survive. He is one hundred percent death sentence. Like the bite of the most venomous snake.
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Progeria affects one-year-old infants regardless of gender, race, or social status. It is like an evil fate infiltrates children who were born absolutely normal from healthy parents. Suddenly the child begins to rapidly grow decrepit. Aging literally in front of his loved ones. And rarely lives to 12-13 years old.
Sick children go to their graves with wrinkled grandparents.
But not at all feeble-minded. Until the last minute, they retain their acquired wisdom beyond their years.
"I will die soon. I know this for sure. And I don't suffer at all. We'll all be there sooner or later, - philosophically reasoned 10-year-old Joseph from Belarus. And smiling slyly, he asked: - Do you know when you will die? No? This is bad. Need to know…"
Joseph died in 2000, whispering that he really wanted to finally leave his worthless body.
A year ago, another case of progeria was recorded in Belarus. The 26-year-old woman looks at all 80 today, in addition, she has been diagnosed with heart calcification, which occurs only in old age. All attempts by journalists to find out the name and address of a unique patient come across unshakable principles of medical ethics.
“It is immoral to arrange a bacchanalia around someone else’s misfortune,” the people involved in this story answer. It is only known that now the woman lives in one of the regional centers of the Minsk region, leading a very active lifestyle.
As the chief geriatrician of the Ministry of Health of Belarus, Professor Alexander Khapalyuk, explains, Hutchinson-Guildford syndrome is an extremely rare pathology at the genetic level: “This is a casuistic example in medicine, like, say, syphilis in a 75-year-old grandfather.” For the first time, doctors described children's progeria in 1886, although, if you delve into history, something similar was encountered long before that.
The disease makes itself felt first with large pigmented spots on the abdomen, and soon children begin to be overcome by the most real old age ailments - heart disease, blood vessels, diabetes, hair and teeth fall out, subcutaneous fat disappears. In the literal sense of the word, every year goes over 10. Unhappy people rarely live to 20 years.
Biological clock failure
While the fate of the rapidly aging is to hide from camera flashes and tactless inquiries. Their pictures are posted on the Internet for everyone to see. And even after death they have no rest: there was a case when the corpse of one American child suffering from Hutchinson-Guildford syndrome, fraudsters wanted to pass off as … the remains of an alien.
“Progeria ages children externally and internally,” says Igor Bykov, PhD in Biology. - All interest in life disappears. The most amazing thing is that almost all of them become similar to each other. Like twins. As if someone had specially cloned them. As if I would have brought out a different race of people who live in accelerated time …
And yet, patients with progeria are not only victims of fate, not only an exhibit for an idle layman. Some scientists see in "reluctant old people" the key to eternal youth. Nature teases man, as it were: look, the chain of life can be changed! And if it can be shortened so cruelly, why not try to do the opposite - add several links at once?
Most of all today "young old people" in Japan - 1 in 40 thousand people. The same Japanese have estimated that there are one in 4 million of them in the world.
“There is just accelerated aging, and there is Progeria disease. Sometimes they coincide, sometimes they don’t,” says Aleksandr Vayserman, Leading Researcher at the Laboratory of Mathematical Methods for Modeling Aging at the Institute of Gerontology. -80 years old, and after 80-90 dies. Acceleration of aging may be due to lifestyle, habitat, hard work, and Progeria is associated with genes. Mutation of a gene can knock down the internal biological clock, and they will start to go at 5 10 times faster."
“At first, when scientists discovered this pattern, they were delighted. They thought they had discovered the longevity gene. Like, we will know which gene accelerates the timing, we will slow it down, and life will be extended. But everything turned out to be much more complicated."
“There are genes that act as clocks,” Weiserman says. - Do you remember that there were turntables on which the disc could be scrolled 33 turns, or 78? So life can suddenly flow in an accelerated rhythm. Then the child begins to develop rapidly, grow up and … grow old, although in principle there is no prohibition on immortality in nature - there is no death timer. But why do people age and die? This mystery is great."
The most striking and one of a kind example is salmon. If in humans instant aging is a super rare phenomenon, then in these fish it is a common thing. Healthy fish in their prime, having overcome hundreds of kilometers of a turbulent river, after fertilization of the eggs suddenly become decrepit, weak, covered with scabs, and pathogenic fungi eat away at their bodies. Females die first, then males: 3-9 days - and life is over. It turns out that they, the only creatures on earth, have a killer gene. In humans, the whole genome plays the role of a clock, so everything is much more complicated.
Mice have already learned how to treat Progeria
The rarity of Hutchinson-Guildford syndrome makes it difficult to study. Nevertheless, in recent years, scientists have been able to establish that the main cause of the disease is a mutation that changes the structure of the prelamin A protein. This protein is involved in the creation of an "internal framework" of cell nuclei. In the cells of patients with progeria, the nuclear membranes shrink, the nuclei acquire an irregular shape. Such cells cannot divide normally. As a result, the body not only stops growing, but also loses the ability to replace dying cells with new ones, which leads to accelerated aging.
In healthy people and animals, the prelamin protein undergoes a series of transformations before taking on its "duties". First, a special enzyme called FTI attaches a farnesyl molecule to one of its ends. The "modified" prelamin is then transported to the nucleus.
Farnesil, according to experts, probably serves as a kind of conditioned signal due to which the transporter molecules "understand" that this protein should be delivered to the inner side of the nuclear envelope. Finally, the enzyme, to which the American scientists assigned the code ZMPSTE24, cuts off the same tip from the prelamin delivered "to the address" to which the farnesil was attached. The result is a "mature" protein called lamin A.
Violation of any of these stages is fraught with dangerous consequences. In patients with childhood progeria, prelamin A is changed in such a way that the enzyme cannot cut off its farnesylated tip. As a result, the protein, already embedded in the inner framework of the nuclear envelope, remains "unfinished", defective.
Substances that interfere with FTI have been tested as a possible treatment for cancer: they inhibit cell division. But preliminary experiments with individual cells of patients with Progeria showed that there is also a positive effect: the use of FTI reduces the deformation of the nuclear membranes.
And just recently it came to experiments on mice. The experiments were carried out on an artificially bred strain of mice with a disabled ZMPSTE24 gene. The results were not perfect, but still very encouraging. Although the use of FTI did not lead to a complete disappearance of the symptoms of progeria, it greatly weakened them.
Without treatment, mice from this line, already at the age of 14 weeks, become so decrepit that they completely lose the ability to hold themselves in the upside-down position, clinging to the metal grate with their paws. Half of the FTI-treated mice performed this acrobatic stunt successfully even at 20 weeks of age.
Overall, the positive effect of FTI treatment in Progeria mice was clearly stronger than the negative one. Therefore, apparently, already in the near future, doctors will be able to significantly alleviate the fate of unfortunate children with progeria …
Gennady NIKOLAEV
