Scientists investigated dogs who avoided death due to the mutation of the gene
One of the 3,500 boys born in the world inherits mutations that force the body to produce an incorrect version of the dystrophin protein. As a result, such a child develops muscular dystrophy Duchenne (Duchenne Muscular Dystrophy).
The disease manifests itself in boys, as the dystrophin gene is located on the X-chromosome. That is, the disease develops from the girl, it should inherit two copies of a mutant gene.
The dystrophin protein helps muscle fibers to keep together, and its absence disrupts the regenerative cycle, which rebuilds muscle tissue. In the end, the muscles in the body of the sick person are replaced by fatty and connective tissue, and people with muscle dystrophy of Duzhenna often still in adolescence are chained to a wheelchair. Most in the end does not live up to 30 years.
As is known, many diseases and methods of their treatment are modeled on animals. In the case of muscular dystrophy, dogs are used. Some females of golden retrievers are carriers of dystrophin mutations, which causes a disease in male puppies. Dogs, as a rule, can exclude such risks using genetic examination of individuals. However, Mayana Zatz, genetics from the University of São Paulo, together with his colleagues specifically breed puppies with mutations. It is clear that such dogs are doomed to death in the name of science.
Not so long ago, researchers from Brazil studied and described Ringo (Ringo), a golden retriever, born in the nursery in 2003. In contrast to many of his fellows survived: the muscles of the Ringo, like other puppies from the same litter, were not degraded.
DNA testing has shown that Ringo and his brothers, despite the wonderful salvation, still inherited dystrophin mutations. Puzzled researchers decided to carefully observe the unusual dogs in a specially equipped laboratory for this, such in which the sick animals are more or less comfortable to live, the scientists emphasize.
Ringo has become a total of 49 puppies from 4 different females. One of these puppies, who received the name of Suffler (Suflair), also did not demonstrate the appearance of muscle dystrophy, despite the inheritance of a faulty gene.
Scientists compared the genomes of Ringo and a souflera with the genome of other golden retrievers suffering from muscle dystrophy, and revealed a mutation in a gene encoding Jagged1 protein, not characteristic of other colony dogs (a total of 31 individuals).
The muscles of the Ringo and his son showed higher levels of jagged1 protein compared to muscles of patients with dogs. When the researchers have implemented this mutation in the embryos of Danio-Roerio Fish, which also lacked dystrophin, this kind of manipulation was protected by farmers from muscle breaks and other symptoms of muscle dystrophy.
Scientists still cannot say unequivocally, as precisely higher levels of the Jagged1 protein protect dogs from muscle dystrophy. This protein is involved in a variety of biological processes, including in the development and regeneration of muscles.
Perhaps this mutation somehow compensates for the problems of regeneration caused by the absence of dystrophin.
Currently, Brazilian scientists are trying to find drugs that will contribute to the production of higher levels of Jagged1 in mice and fish Danio-Roerio (and those, and others are also modeling organisms, while they are easier to grow and pass over their relatively short life).
Experts believe that mutation opposing muscle dystrophy may indicate new methods of treating not only muscle dystrophy of Duzhenna, but also other causes of musculature atrophy, including age.
Ringo died last year at the age of 11, which corresponds to the normal life of golden retrievers. Suffler is currently 10 years old - he still walks, although it can not jump.
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Congenital or acquired? To what extent is congenital, but what kind of purchased? Disputes of this kind are carried out by almost any property of the human body, and, in particular, Ryano, on deviations from the norm.
The relevance of the topic recently, I watched TV and saw the transfer of a group of scientists - geneticists, which, told about genetic mutations. Some argued that genetic mutations - "Plague of the 21st century". Others have not seen anything bad. I decided to weigh all the advantages and disadvantages of genetic mutations.
Genomic mutations - a change in the number of chromosomes in the genome of polyptloidis of the formation of the form organizations or cells, the gene of which is represented by more than two sets of chromosomes. Radioactive radiation, the effect of pesticides, high or low temperatures lead to a violation of chromosome discrepancies to the cell poles during mitosis or meyosis. Aneuploidy (heteroploida) change (increase or decrease) the number of chromosomes, not a multiple of the haploid set. The chromatide of individual chromosomes during mitosis, individual homologous chromosomes in MEIOSE, does not discrepan.
Chromosomal mutations - a change in the structure of chromosome to deletion of the loss of the chromosome section. The reasons for these mutations are different: disorders arising during meyosis, with cellular division, as well as chromosomes and chromatide, and their reunification in new combinations, at which the normal structure of the chromosome is not restored. Solutions of lead and mercury, formalin, chloroform, drugs to combat agricultural pests can provoke these mutations Translocation Changing the position of any sector of chromosome in a chromosomal set. The basis is the basis of mutual exchange of areas between two non-homologous chromosomes, moving the site within the same chromosome (intrachromosomic transposition) or to another chromosoma (interchromosomal transposition) duplication (doubling) doubling the chromosome fragment, when one of the sections is presented in chromosome more than once. Inversion Rotate 180 ° of individual sections of chromosomes, as a result of which the sequence of genes on the inverse is changed in the inverted portion. Central merge fusion of non-homologous chromosomes.
Gene (Point) Mutations Changes in the nucleotide sequence of DNA molecule in a specific area of \u200b\u200bchromosome. Impact of chemical mutagens, UV - rays. 2. At the place of occurrence, somatic mutations arise in somatic cells the impact of chemical mutagens, UV - rays The generative mutations occur in the cells from which gear develops, or in sex cells. Impact of chemical mutagens, UV - rays 3. According to adaptive value, harmful mutations reduce the viability (half-dollar). Mutations leading to death. Radioactive radiation, exposure to pesticides, medicines. Useful mutations serve material for the evolutionary process, used by a person to remove new varieties of plants, animal breeds. There are rare - one hundreds of thousands of cases.
Genetic Diseases Characteristic Examples Congenital are caused by various harmful factors that act for future mom during pregnancy Part of the innate diseases is inherited. Occupy the first mortality place. Fetal alcohol syndrome - deviations in the psychophysical development of the child, the reason is the use of a woman of alcohol before and during pregnancy. Syndrome is the main cause of mental development violations. Down syndrome The form of genomic pathology at which the karyotype is most often represented by 47 chromosomes, since the chromosome 21st pairs are represented by three copies. Hereditary diseases caused by chromosomal and genital mutations. Can manifest themselves at any age, but more often manifest in children. The hereditary diseases do not affect mutagenic factors. Alzheimer's disease. Symptoms: confusion, irritability and aggressiveness, mood fluctuations, violates the ability to speak and understand what has been said, there is a loss of long-term memory. Parkinson's disease is a chronic disease characteristic of older people. Caused by the progressive destruction and death of neurons of the black matter of the middle brain and other divisions of the CNS are characterized by motor disorders, vegetative, mental disorders. Middle brain neurons Acquired diseases acquired during life. They can smoothly flow into hereditary. Some acquired diseases remain with the owner, and some quickly pass. Alosmia is a loss of smell. Partial anosmia is more often found for some substances. Smean
Conclusion: Studies at different objects have shown that the phenomenon of mutational variability is characterized by all organisms. Mutations affect the diverse sides of the structure and function of the body. Currently, the following types of mutations are distinguished: genomic, chromosomal, gene. Genetic mutations include, above all, diseases associated with them. All genetic diseases are divided into 3 groups: congenital, hereditary acquired. For mutation there is some reason, although in most cases it is impossible to determine. The number of mutations can be dramatically increased by acting on the body so-called mutagenic factors. Most mutations are harmful to the body, but may be neutral and useful mutations. Scientists have established that our organism mutters independently struggling with many diseases, in addition, scientists create medicines, thanks to which we do not die from the most simple diseases (cold, flu, etc.), and this is also a mutation.
Most mutations are harmful or have a small economic significance. Singleton pointed out that mutational selection gave some valuable plants lines.
He spent a lot of time and effort to study the effect of constant or long gamma irradiation on the frequency of mutations. This was done when used as a source of radiation from 60. The emitter with CO 60 was placed in the middle of the field, and the plants grew around it.
Singleton experiments have shown that mutations can more effectively be induced when processing corn plants for a short time of a rather high dose of radiation, provided that this period is radio sensitive. For corn, such a period occurs about a week before the flowering of blizzard, but, undoubtedly, after meiosis, which is a period of pollen sensitivity. Since when irradiated at the moment of meiosis, pollen is easily damaged, it is necessary to give meize to be completed before the plants are placed on the radiation field. To maximize the efficiency of induction of mutations, the plants should not be grown on the radiation field, but only to put for a short time.
Singleton noted that Swedish breeders used radiation to obtain new varieties of barley, wheat and oats. Some mutant barley lines have dense bumps and very durable solomin. Other lines were higher and more early than parents. One line gave more grains and straw than her parents. Some of the new oat lines used to ripen, had more grain and gave a greater harvest. Some of the new wheat lines compared to their parents were more low, high-yielding and resistant to stem rust. With the help of radiation, new varieties of pea, wiki and potatoes were displayed.
Genetic methods can be used to control the number of populations and to combat many harmful insects. A variety of documented genetic methods can be considered to regulate the number of pests. There are two bases for this: the long tradition of insect genetics, in which chromosomal manipulations became elegant science, and the old tradition of entomology, which developed from the need to combat insects, which tolerate diseases or compete with a person for food.
Wallace and Radzhany described the conditions leading to a genetic reduction and extinction of the population. They considered induced recessive lethal mutations and dominant lethal mutations and formulated the idea that extinction can be caused only by a huge frequency of dominant lethal mutations.
Queenbi, Golja, Newbies, Nelson, McKej, Caldekott and North, were made on the assessment and use of mutations. The possibilities of future use predicted Smith, Nilan and Conzak and Gregory.
Smith and Borstel von Burstel listed genetic mechanisms that can cause a reduction and destruction of the population. These include: 1) a meiotic drift, inseparablely connected with females sterility genes, 2) conditionally lethal mutations, 3) an unstable genetic equilibrium caused by composite parts of chromosomes, translocation.
Mutation selection discussed Gregory. One section of his article is called "induced mutations of quantitative signs." Gregory induced a significant increase in genotypic variance of peanut yield by X-ray seed irradiation. He reported the depressing effect of X-rays on the average yield of peanuts. Similar results were obtained by other research researchers, sly, barley and wheat.
Gregory suggested that the differences in the spectra of mutations caused by different types of irradiation and different chemicals, suggest that the imposed by the genotype of mutations restrictions can be partially overcome by using a large number of mutagenes, for which differences in specificity were shown on the lower organisms. He came to the conclusion that it is impossible to wait for the only large step forward from the induced mutations in highly adaptable material. Gregory stressed the need to apply the continuous pressure of the selection of high-quality species.
The frequency of mutations, the value of the change and the likelihood of improved varieties was considered by Gregory. According to him, in the polygenic system of the number plus and minus mutations are approximately the same; There is a magnitude of the phenotypic effect of mutations, which gives "minus" effects, and there is no one single-controlle. The frequency of the observed changes in the peanut population increases with a decrease in the magnitude of the changes.
The potential utility of mutation selection is controversial. However, the latter is another tool in breeding programs.
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In the last addition of EVE Online: Into The Abyss has appeared new features for pilots. One of the main - Mutaplasmids, allowing to change the characteristics of modules, increasing their efficiency or, on the contrary, turning them into an unnecessary pile of garbage. Mutation in Eve Online Significantly helped pilots of the entire new Eden.
Players strengthened their ships. Although there is one reservation - to extract mutaplasmids is not cheap and rather risky. From this guide, you will learn what is a new material for the upgrade, as well as how it modifies the modules. Register at Eve Online on the official game site, and get an additional 250 "000 skill points from the very beginning.
General characteristic of mutation in EVE Online
Pilots activate mutaplasmids from any place, whether it's hangar or a sip of spacecraft. Modules are simply dragged into the interface window that appears. After the mutaplasmid, as well as the module is selected, the user launches the "Mut" command. As a result, you will see that the parameters updated in a plus or minus (the neglected mutational gameplay is irreversible).
Modified in the course of exposure to items receive a special icon on the display icon: a light triangle deposited on a burgundy check box. Such things can not repack / sold in the game market. The information board of a mutated module displays both the new properties of the subject and those that were initially. Here you can find out the name of the pilot that running the mutation. Players EVE Online It is recommended to use the obtained modules only after studying new properties of the properties, as each item is unique.
What is Mutaplasmid in the virtual world of Eva
Mutaplazimides are a group of items designed to improve the attributes of modules for ships. You can get mutaplasmids in Eva from the abyss, where this material exists in three varieties:
- Gravid;
- Unstable;
- Decayed.
A higher level of mutaplasmid contributes to a greater positive / negative impact on modules. To find out detailed information about possible modifications after mutation, go to the tab "Properties" (attributes) - They are available on each Mutaplazimide, just call the information window about this subject. Please note: Use Mutaplazimides only with suitable modules - their list you will find in the tab "Used C" (USED WITH).
How to get mutaplasmids at your disposal
There are two ways to get mutaplazimids for mutation of modules in EVE Online - buy on the game market (better in the system Jita.) Or independently get from the lute in the abnumbs. The market is not wonderful, just score in the search for goods described above - Gravid, Unstable or Decayed. Get the cherished items in the abyss will be more complicated:
- Buy a key to enter the abyss in the game market in the "Products" section (TRADE Goods) → "Nights of the Abyss" (ABYSSSAL FILAMENTS).
- Being in the open space on a ship with a key in the truma, you can enter the closed zone - the abyss. Different keys are intended for zones of different types (the zone type is displayed in the name of the key).
- After activating the key, the player is transferred to the first pocket of the abyss. There are NPC enemies in it, as well as the gate to the next pocket. There are three of them three in each abyss.
- Each pocket contains a structure that can be destroyed. Make it easy. As a result, the Mutaplazimids often fall out, as well as new keys, drawings and materials for the construction of new triluvian ships.
Pros and cons of mutation
A module treated with mutaplasmid gives only a chance for success. It is possible to compare it with the game in the roulette - in case of badness, the characteristics of combat equipment are reduced. Another option: some opportunities that have appeared deteriorate, others, on the contrary, are improving. The line of modules now includes a variety of unpredictable options, which will be trading through the market the most likely will not be possible - only through contracts. That is, players here are faced with completely different gamediza developers incentives.
Players believe that mutation in MMORPG EVE Online fully changed the game. Yesterday's garbage now acquires greater value, and what was popular - become unnecessary trash. You can learn more information from the game client itself, as well as on the official EVE Online Forum. Your opinion is important to us - leave a comment about this new chip in the game.
Rudimentary structures and compromise structures can still be detected in the human body, which are well-defined evidence that our biological species has a long evolutionary story, and that he doesn't just appear from nothing.
Also, another series of evidence of this are ongoing mutations in human gene pool. Most random genetic changes are neutral, some harmful, and some turns out to cause positive improvements. Such useful mutations are raw materials that can be used with the natural selection over time and is distributed among humanity.
In this article, some examples of useful mutations ...
Apolipoprotein AI-Milano
Heart disease is one of the bioches of industrialized countries. She was inherited from the evolutionary past, when we were programmed to the desire to obtain rich firms, at the time of the rare and valuable source of calories, and now the cause of the blockage of the arteries. However, there are evidence that evolution has the potential to be studied.
All people have a protein gene called Apolipoprotein AI, which is part of the system transporting cholesterol in circulation. APO-AI is one of the high density lipoproteins (LVL), which are already known that they are useful because it is removed by cholesterol from the walls of the arteries. It is known that among the small community of people in Italy there is a mutating version of this protein, which is called apolipoprotein Ai-Milano, or, abbreviated, APO-AIM. APO-AIM acts even more efficiently than APO-AI during the removal of cholesterol from cells and the absorption of arterial plaques, and also additionally acting as an antioxidant that prevents inflammation, which usually occurs during arthrosclerosis. Compared to other people, people with APO-AIM genome are significantly lower than the risk of the development of myocardial infarction and stroke, and now pharmaceutical companies are planning to market an artificial version of the protein in the form of a cardiosaped drug.
Other drugs are also produced, based on another mutation in the PCSK9 gene producing such an effect. People with this mutation have 88% reduced the risk of heart disease.
Increased bone density
One of the genes, which is responsible for the bone density in humans, is called LDL-like receptor of low density 5, or, abbreviated, LRP5. Mutations that weaken the LRP5 function are known to cause osteoporosis. But another type of mutation can strengthen its function, causing one of the most unusual well-known mutations in humans.
This mutation was discovered by chance when a young man with his family from the Midwest fell into a serious car accident, and they left the scene of her incidents themselves without a single broken bone. X-ray revealed that they have, as well as other members of this family, the bones were much stronger and denser than usually it happens. The doctor engaged in this case, said that "None of these people whose age hesitated from 3 to 93 years old, never broke the bone." In fact, it turned out that they are not only unresponsible to injury, but also to the usual age degeneration of the skeleton. Some of them had a benign bony growth in the sky, but in addition, the disease did not have other side effects - in addition, as dryly was noted in the article that it made it difficult to swim. As in the case of APO-AIM, some pharmaceutical firms explore the possibility of using this as an initial point for therapy, which could help people with osteoporosis and other skeletal diseases.
Resistance to malaria
A classic example of an evolutionary change in people is a hemoglobin mutation called HBS, forcing red blood cells to take a curved, self-shape. The presence of one copy gives resistance to malaria, the presence of two copies causes the development of sickle cell anemia. But we are not talking about this mutation.
As it became known in 2001, Italian researchers who study the population of the African country of Burkina Faso opened a protective effect associated with another version of hemoglobin called HBC. People from just one copy of this gene by 29% are less risky to get infected with malaria, while people with two copies can enjoy a 93% risk reduction. In addition, this version of the gene causes, in the worst case, light anemia, and by no means exhausting sickle-bottle disease.
Tetrochromatic vision
Most mammals have chromatic vision imperfectly, since they have only two types of mesh columns, retinal cells that distinguish between various colors. People, like other primates, have three such types, the inheritance of the past, when good chromatic vision was used to search for ripe, brightly colored fruits and gave advantage for survival of the species.
The gene for one species of the retinal mesh, which is mainly responsible for the blue tint, was found in chromosome Y. Both other types that are sensitive to red and green color are in the X-chromosome. Due to the fact that men have only one X-chromosome, a mutation that damaging the gene that is responsible for the red or green shade will lead to red-green color blindness, while women will last a backup. This explains the fact why this disease is almost exclusively inherent in men.
But the question arises: what happens if the mutation of the gene responsible for red or green does not hurt him, but will move the color gamut for which he answers? The genes that are responsible for red and green colors, that appeared, as a consequence of duplication and divergence of a single hereditary Met's columin gene.
For a man, it would not be a significant difference. He would still have three color receptors, only the set would differ from ours. But if it happened with one of the mars of a woman's mesh, then the genes responsible for blue, red and green colors would be in one X-chromosome, and the modified fourth - in another ..., which means that she had Four different color receptor. It would be like birds and turtles, a real "tetrachromat", theoretically able to distinguish the shades of color, which all other people cannot see separately. Does this mean that she could see completely new colors, invisible to everyone else? This is an open question.
We also have evidence that in rare cases it has already happened. During the study on the distinction of colors, at least one woman accurately showed the results that could be expected from the real tetrachromate.
We are already about the artist from San Diego, she is a tetrachromate.
Less need in a dream
Eight-hour sleep is needed not to all: scientists from the University of Pennsylvania found a mutation of a little learned gene BHLHE41, which, in their opinion, allows a person to fully rest for a shorter sleep time. In the course of the study, scientists asked a couple of non-sensed twins, one of which had the aforementioned mutation, refrain from sleep for 38 hours. "Twin mutant" and in everyday life slept only five hours - an hour less than his brother. And after the deprivation, he performed 40% less errors in tests and it took less time to fully restore cognitive functions.
According to scientists, thanks to such a mutation, a person spends more time in a state of "deep" sleep required for the full restoration of physical and mental forces. Of course, this theory requires more thorough study and further experiments. But so far she looks very tempting - who does not dream, so that there were more hours in the days?
Hyperellastic leather
Elens - Dunlosy Syndrome is a genetic disease of the connecting tissues, affecting joints and skin. Despite a number of serious complications, people with this ailment can be painlessly bending limb under any corners. The image of Joker in the film Christopher Nolan "Dark Knight" is partially based on this syndrome.
Echolocation
One of the abilities that anyone owns it to one degree or another. Blind people learn to use it perfectly, and this is largely founded by Superhero Sorvigolov. You can check your skill with eyes closed in the center of the room and loudly climbing tongue in different directions. If you are an echolocation wizard, you can determine the distance to any object .
Eternal youth
It sounds much better than it really is. The mysterious disease that the "syndrome X" was painted prevents people any signs of growing up. The famous example is Brooke Megan Greenberg, who has lived to 20 years and at the same time body and mentally remaining two-year-old child. Almost three cases of this disease are known.
Insensitivity to pain
This ability has demonstrated a superhero pipets - this is a real disease that does not allow the body to feel pain, heat or cold. The ability is quite heroic, but thanks to her, a person can easily harm himself, not aware of this and forced to live very carefully.
Superpower
One of the most popular abilities for superheroes, but one of the most rare in the real world. Mutations related to the disadvantage of the protein of myostatin leads to a significant increase in human muscle mass with the lack of growth of adipose tissue. There are only two cases of such defects among all people, and in one of them a two-year-old child has a body and bodybuilder power.
Golden blood
Blood with zero Rh factor, the most important in the world. Over the past half century, only forty people were found with this type of blood, at the moment there are only nine. Resh-zero is suitable for absolutely all, since it does not have any antigens in the RH system, but its carriers themselves can save only the same "brother on golden blood".
Since scientists have already been engaged in such issues long enough, it became known that you can get a zero group. This is done at the expense of special coffee beans, which are able to remove agglutinogen in red blood cells. Such a system worked relatively not long, since there were cases of incompatibility of such a scheme. After that, another system was known, which was founded at the work of two bacteria - the enzyme of one of them killed agglutinogen A, and the other V. Therefore, scientists concluded that the second method of formation of the zero group is most effective and safe. Therefore, the American company is still working hard on the development of a special apparatus, which will effectively and qualitatively convert blood from one blood group to zero. And such zero blood will fit perfectly for all other transfusions. Thus, the question of donation will not be as globally, as now and all recipients do not have to wait so much to get their blood.
Scientists more than one century have long break their heads about how to make one single universal group, people with which will be at least risk for various diseases and disadvantages. Therefore, today it has become possible to "reset" any group of blood. This will allow in the near future to significantly reduce the risk of various complications and diseases. Thus, studies have shown that men and women have the least risk of developing IHD. Such observations conducted more than 20 years. These people over a certain period of time responded to certain questions about their health and lifestyle.
All existing data was published on various sources. All studies led to the fact that people with a zero group are really less ill and have the smallest probability of the disease of the CHA. It is also worth noting that the rhesus factor has no certain impact. Therefore, the zero group of blood does not have any rhesus factor, which can separate the other group. One of the most important reasons was that each blood has a different coagulation to all of this. This further complicates the situation and misleading scientists. If you mix the zero group from any other and do not take into account the level of coagulation, it can lead to the development of atherosclerosis and death. At the moment, the technology of turning one blood group to zero is not so common that each hospital can use it. Therefore, there are exclusively those common medical centers that work at a high level. The zero group is the new achievement and discovery of medical scientists, which today is not even familiar.
But you knew that there was still
