He Alzheimer This is a multifactorial disease. In general, this cannot be considered purely genetic. Nevertheless, it is true that there are certain mutations that are an almost safe belief that it is usually known as Youth or premature disease of Alzheimer. The first symptoms usually appear in this About 50 yearsOr even earlier, and this is quite common in one family. This is a case of a person whose situation was recently described in the study Natural medicine.
This is part of the family, very studied by science, since there are many members on them, and the vast majority suffer from mutations that significantly increase predisposition Youth Alzheimer. Your case is no different. This also has these mutations. However, despite the fact that his brain had some Markers of diseasesmanaged to evade this for years.
The authors of the study are not confident in the reasons why this person managed to avoid the youthful disease of Alzheimer. But they have certain hypotheses. One is connected with Other mutations Present in their DNA, which were not in their relatives. But the most amazing is the second. And this is that these scientists believe that the patient can prevent the disease due to his profession The ship is a mechanic.
Genetics Alzheimer
Alzheimer is a neurodegenerative disease, the symptoms of which usually begin at the age of 65. It is considered multi -factor, because there are many factors that affect its appearance. They vary from smoking to arterial hypertension, with low cognitive stimulation and, of course, the genetic component.
Several genes are known, which can predispose to the appearance of the disease. The most common is that it is Mutations in the Aopolipoprotein gene (APOE). This is a gene that contains instructions for protein synthesis, which helps transport cholesterol and other fats in the bloodstream. If this does not work correctly, it seems that this can increase the risk of developing Alzheimer’s disease. However, this gene is not necessarily a safe conviction. In fact, you should take care of the famous genetic tests -Risk, which can be purchased today, everyone can purchase, since they often scare those who make them using data, which do not say anything safe. There is nothing more to see in the case of Chris Hemsworth, who made one of these tests and discovered that, according to the visible, he was at risk of Alzheimer’s disease.
Other mutations
In addition to mutations in APOE, there are some that suggest Higher riskThe field is those that are usually found in very few families, and, as a rule, they cause much earlier Alzheimer diseases. There are cases when this can begin even at the age of 30, although the most common is that the symptoms begin about 50. Also long before the most common type of Alzheimer’s disease.
These cases of Alzheimer’s early disease are usually associated with mutations in one of these three genes: Appendix, Psen1 or Psen2. These mutations cause early accumulation in the brain Beta -amyloid platesIt is considered one of the reasons for the deterioration of neurons in Alzheimer’s disease. Some specific mutations in these genes accumulate in very few families, so they are of great interest for science. The patient, the main character of this study belongs to one of these families, but did not follow that it seemed that genetics had dictated.
Family under a magnifying glass of science
The mother of the patient you spoke in this study Mutation in the Psen2 geneField in particular, an option known as Psen2 P.ASN141ILwhose origin goes back to people from Two small German cities in the Volga regionThe field of 11 out of 13 brothers of the patient also had a mutation, and all of them developed the symptoms of Alzheimer for about 50 years. In fact, the average age, to which the symptoms began both in the mother and in the brothers, was from 49.3 yearsThe field of the last case occurred in a person with 58 years. Nevertheless, the patient whose case reported in the study was still free from the disease with more than 72 years, despite the fact that he had the same mutation as his family.
The patient who dodged Alzheimer’s disease
Seeing that he did not develop in the same way as his family, the researchers followed this patient and found several interesting data. The first is that in 61 his brain was already full Beta -amyloid platesThe field but, against what was expected, he barely demonstrated inflammation and was not discovered Cognitive deterioration.
Beta -amyloid plates are a powerful brain marker Alzheimer, but not the only one. In fact, it is believed that a significant part of the symptoms occurs from the accumulation Tau protein all over the brain. In the case of this patient, there was an excellent concentration of this protein in The occipital share, associated with vision. However, the rest of the brain was almost clean.
This is the reason why the patient did not show cognitive disorders. Although, with curiosity, it was not Vision problems.
Why were there no symptoms of Alzheimer’s disease?
Scientists believe that it is the deterrence of Tau protein that inhibits Alzheimer’s disease in this and several other patients in which similar progress was discovered. But how to get there?
Scientists who have studied the case insist that one person does not serve to obtain firm conclusions. Nevertheless, your business can serve in order to give a branch to quit and continue the investigation. When studying their genes, others discovered Nine options Genetics, which was not in their relatives. Three of them are associated with Alzheimer’s disease. The rest are not, but they are associated with cerebral inflammation.
While the accumulation of more mutations may indicate a greater seriousness of the disease, scientists believe that in this case a lot is said roughThe brain protects against neurodegeneration. Nevertheless, it is possible that there is another factor, and it will be the profession of the patient.
Before retirement, he worked as The sea ship is a mechanicThe field of his work on board leads to spend many hours at very high temperatures. This includes stress that can realize Brain protection mechanisms before Thermal blow It was evident that these mechanisms affect Solder of proteinThe field since the accumulation of the protein TAU and beta -amyloid plates is due to their poor folding, it is possible that the desperate protection of the brain of this person from excessive heat is protected from him from Alzheimer’s disease, to which he seemed genetically convicted.
A curious case with Aliria Rosa
In the Antioch region, in Columbia, there are four cities in which new cases of Alzheimer in People are about 40 years old. In the past, its inhabitants thought that it was a curse that stole their memory. Today we know that in the families of this geographical region there is a very well -preserved mutation, so most patients, like a family of ship mechanics.
Therefore, like this family, almost all the inhabitants of these places are under a magnifying glass of science. A magnifying glass with which another very specific case was revealed Aliria Rosa Pedrahita de VillegasThe woman had the same genetic option that fell ill with a large part of her relatives and neighbors at the age of 40. However, she barely began to show the symptoms of some diseases of Alzheimer In 72. He died at the age of 77 from cancer and showed only a very small dementia.
It is believed that the protection in this case was associated with The second mutationAlthough your case is still studying today. In fact, after his death, which occurred in 2020, the family sacrificed their brain to science.
It is clear that there are people who, even with all genetic ballots, are evading the worst method of Alzheimer, which exists. Having learned how they achieve this vital to combat this terrible disease, Alia Rose was a good example of this, and there is also a lot of ship mechanic, of course. The mission of science is to find them, and, a little little by little, continue to place pieces of puzzles.
Source: Hiper Textual
