Lead
A rare genetic mutation that can cause carriers to live short but longer may be derived from a genetic disorder called Leylen syndrome.
The disease is caused by a genetic mutation that makes people less short than the average person and has a low level of growth hormone called IGF-1.
People's perception of life expectancy is basically "long life in large volume, short life in small volume", and this model of small volume and long life is not uncommon in nature, but it is relatively rare in humans.
But it is precisely because of this rarity that it has become an important object of study for scientists, because from this rare species, scientists may be able to discover some biological laws worth studying.
So scientists have studied this rare person who is short in stature but has a long lifespan, and they have found that this kind of person may have the characteristics to prevent heart disease, and they live more than 10 years longer than the general population, so what exactly is this rare genetic mutation?
And how did he make the life of the carrier so long?
1. Reduce IGF-1 levels and prolong life.
The study of human lifespan dates back to the last century, when an American scientist was studying the lifespan of animals and discovered a way to reduce IGF-1 levels to extend the lifespan of animals.
So what is IGF-1?
IGF-1 is a receptor signaling pathway that triggers a series of growth-promoting responses in the body.
And how does IGF-1 inhibit the lifespan of animals?
To solve this mystery, scientists conducted a series of tests of their surroundings and found that IGF-1 levels were lower in some long-lived species than in short-lived ones.
Therefore, scientists have proposed a hypothesis that when animals enter old age, there may be a regulatory mechanism that inhibits the IGF-1 signaling pathway, thereby inhibiting growth.
In this way, the animal can focus more on preventing aging in old age, rather than continuing to grow.
This regulatory mechanism may be an inhibitor in the IGF-1 signaling pathway, which will gradually increase when animals enter the old age stage, thereby inhibiting the IGF-1 signaling pathway and making animals pay more attention to preventing aging in the old age stage.
And it is precisely because the IGF-1 signaling pathway has a certain regulatory effect on the lifespan of animals, so scientists have studied this signaling pathway, and they found that a substance called protease can inhibit the IGF-1 signaling pathway.
So scientists began to study the distribution of this protease in animals, and they found that the protease was present in higher levels in those with a longer life span than in those with a shorter lifespan.
This confirms the scientists' hypothesis that animals entering the old age stage may produce a inhibitor that inhibits the IGF-1 signaling pathway, which in turn inhibits growth, allowing the animal to focus more on preventing aging.
So what is this inhibitor?
Which gene produced it?
In order to solve this mystery, scientists conducted a series of studies on mice, and they found that mice have a substance called Fbxo40 protease, which can inhibit the IGF-1 signaling pathway and prevent animals from continuing to grow.
In addition, the content of Fbxo40 will gradually increase when mice enter old age, so it can also inhibit the IGF-1 signaling pathway in old age, so that mice can focus more on preventing aging rather than continuing to grow.
So how does Fbxo40 regulate the IGF-1 signaling pathway in humans?
In order to solve this mystery, scientists have conducted a series of studies on the genes in the human body, and they have found that there is a gene called Fbxo40 in the human body, which can produce the Fbxo40 protease.
And this gene has a special mutation in patients with Lylen's syndrome, this mutation will lead to a decrease in the content of Fbxo40, so the content of Fbxo40 is reduced, its ability to inhibit the IGF-1 signaling pathway will also be weakened, and the human body will be able to maintain normal growth.
Therefore, this genetic mutation in people with Lylen's syndrome is responsible for their short stature.
Second, the life expectancy exceeds that of the general population.
So why do people with Lylen's syndrome have short stature?
This is due to the fact that the mutated gene in people with Lylen's syndrome causes extremely low levels of IGF-1 in their bodies, which can lead to slow bone growth and ultimately short stature.
So what is the lifespan of a person with Leylen's syndrome?
This is due to the fact that people with Lylen's syndrome have low levels of Fbxo40 in their bodies, so they will also live longer.
Scientists have studied the genes in people with Lylen's syndrome, and they have found that there is a special mutation in the Fbxo40 gene in people with Lylen's syndrome, and this mutation causes the amount of Fbxo40 to decrease, and therefore the amount of IGF-1 in their bodies.
So how does IGF-1 affect lifespan?
IGF-1 can inhibit apoptosis by modulating a substance called the PI3K/Akt signaling pathway, thereby promoting cell growth.
However, when cells grow too much, it can lead to some diseases, one of which is heart disease.
As a result, people with Lylen's syndrome who are short in stature have lower levels of IGF-1 in their bodies, which allows them to "protect" their hearts.
So scientists conducted a series of studies on this idea, and they found that people with Leylen's syndrome are healthier than the general population in terms of heart-related indicators.
Therefore, scientists believe that inhibition of the IGF-1 signaling pathway may be a way to slow down aging.
So they also studied the lifespan of people with Lylen's syndrome, and they found that people with Lylen's syndrome lived more than 10 years longer than the general population.
3. IGF-1 signaling pathway and longevity.
Over the past few decades, scientists have been exploring the mysteries of human longevity, discovering that there may be a trade-off between genes in humans for energy distribution.
That is, human beings may have a trade-off between growth and prevention of aging, and when the energy in human beings is limited, they may have to choose between these two aspects, so which gene produces this trade-off?
This goes back to the last century, when an American scientist discovered that a gene called DAF-2 can extend the lifespan of toads.
The daf-2 gene corresponds to the IGF-1 signaling pathway in humans, so the toad in the form of dauer is also a short toad, just like a patient with Leylen's syndrome.
Therefore, scientists have speculated whether humans also have a dauer form that can make humans live longer by inhibiting the IGF-1 signaling pathway.
However, inhibition of the IGF-1 signaling pathway will cause some problems in the human body, which is why scientists have not studied it.
Because IGF-1 still has some normal effects in the human body, such as it can promote the growth of bones and muscles, if it is inhibited too much, it will also bring some problems to the human body.
But scientists have found some useful information by studying people with Leylen's syndrome, and they found that the Fbxo40 protease in people with Lylen's syndrome can only inhibit part of the IGF-1 signaling pathway.
Therefore, scientists can discover a new anti-aging drug by studying the structure of these proteases that inhibit some, but not all, of the IGF-1 signaling pathway.
epilogue
Therefore, this rare genetic mutation in patients with Leylen syndrome can not only make humans live longer, but also help scientists discover a new anti-aging drug.