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"Chromosome 6" is the smallest chromosome in the human body, and the genes it carries on it only account for 5% of all genes in the human body, but this 5% of the genetic content involves many functions in the human body, including human growth, immunity and so on.
If there is an abnormality on chromosome 6, it will lead to various problems in the human body, including sleeping and eating.
In 2016, a British girl named Olivia Farnsworth, who was called a "bionic girl" because of a missing chromosome 6, made a documentary about her life.
Because this girl is missing chromosome 6, she will even stay hungry for a short time, but she herself does not feel hungry, or even fatigue and pain, so she is called the only "three-free human" in the world.
1. Diseases caused by chromosomal deletions.
The life of this bionic girl, Olivia Faenswon, is not as free as one might think, and her life has become unusually unfree due to the lack of chromosome 6.
Although she doesn't feel hungry, her body doesn't have the ability to digest food, so she can't eat like a normal person, and can only eat some special nutritional drinks every day, which are also researched by doctors.
In addition, Olivia Faenswon's sleep is also very bad, she needs to take sleeping pills every night when she sleeps, and her family often finds that she suddenly wakes up in the middle of the night when she sleeps, and then plays like no one else, and even once she even put on a show of performance while sleeping, and her family even thinks that the house is haunted.
But in fact, all this is because Olivia Farnswon's brain is not working, because of the lack of chromosome 6, her family even suspects that there is no connection between her brain and her body, but Olivia herself does not feel that there is anything wrong with her, and she herself is very fond of "sleeping".
However, her brain has not rested during this period, but has been working, so she will train her head in advance to do what she will do in the future, even a hundred times, so that her brain will hardly feel tired.
At the same time, she does not feel physical pain, for example, when her foot is run over by a car, she only feels numb in her leg, but she does not feel pain.
2. What does chromosome deletion affect.
The deletion of chromosome 6 can lead to such a condition in the human body, so what is the specific effect of chromosome 6 on the functioning of the human body?
The first is about Olivia Farnswon's sleep problem, because one of the genes carried on chromosome 6 is a gene called "shox", which helps the body release a hormone called "growth hormone (GH)", which helps the body to grow and develop while sleeping.
But Olivia lacks this gene, so her body doesn't recognize that she needs to release growth hormone while she sleeps, so she needs to take growth hormone every night to be able to grow and develop while sleeping.
When she takes growth hormone, she may have a condition called "growth hormone deficiency" during this period, which can cause problems with her height, so when she is taking growth hormone, the doctor also needs to strictly monitor her to ensure that her growth and development are normal.
However, the lack of this gene on chromosome 6 has reduced Olivia's sleep time, so she needs to take sleeping pills every night to ensure that her brain and body can rest.
In addition, chromosome 6 also carries a gene called "Circadian Clock", which can help the body recognize the alternation of day and night, help the body's metabolism adjust, and also help the body's brain to learn and remember better.
Olivia's lack of this gene makes it impossible to recognize day and night, so she doesn't distinguish between day and night, but her brain makes up for it, so her brain is more flexible, and even remembers things to do in her own way.
At the same time, chromosome 6 also carries a gene called "HLA", which can help the body's immune system recognize the good and bad cells inside the body and then eliminate them, while Olivia lacks this gene, she cannot recognize the good and bad cells inside, which also leads to problems with her immune system.
Therefore, Olivia's immune system will be much worse than ordinary people, which means that she will be more susceptible to various diseases, and at the same time, there will be a certain amount of "bad cells" in her body, which will undoubtedly bring a lot of inconvenience to her life, so she needs to take some immune system regulating drugs every day to ensure that her immune system can work normally.
3. What problems can chromosomal abnormalities bring?
Whether it is a chromosome deletion or an extra chromosome, it can cause serious physical and intellectual problems for patients, such as trisomy 21 and chromosome 18 redundancy, which are also relatively common chromosomal disorders.
Trisomy 21 syndrome can be divided into three different conditions, including trisomy, trisomy polysomy and partial trisomy, of which trisomy is the most common condition, but when patients suffer from this disease, they will have mental deficiency and some physical problems.
When a patient suffers from chromosome 18 superfluity, then the patient will have an extra chromosome 18, which will lead to a disease called "Edward's syndrome", which can also cause the patient to have mental deficiency, and the patient will also have some appearance problems, such as thick double eyelids.
At the same time, patients with chromosomal abnormalities will suffer a certain degree of physical and psychological damage, so in the process of treatment of these patients, it is necessary not only to treat the symptoms, but also to care for the patients.
At the same time, for diseases with chromosomal abnormalities, it is not enough to have genetics experts, we also need neuroscientists, psychologists and other experts to jointly study and diagnose the patient's condition.
epilogue
As the only patient in the world who is shown to be "three no humans" because of the deletion of chromosome 6, Olivia Faenswon's experience has also been filmed into a documentary, which will undoubtedly give people a better understanding of chromosomal abnormalities, and also hope that people can pay more attention to patients with chromosomal abnormalities and give them more care and support.