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Human genes and their usefulness in the treatment of genetic diseases

A large and important development witnessed by talking to various branches of science, including modern science of genetics, which has seen in recent years, special attention in order to access additional results regarding the transmission of genetic traits. In addition to addressing some of the problems and genetic diseases, and others, as some experts say.

Genetics, as some sources point out, is the science that studies genes and genetics and the resulting diversity of living organisms.

Some scientists believe that the previous period has seen great success in this area, especially since the current research relies heavily on the use of modern and sophisticated scientific means, contributed to change a lot of the previous findings, including the conduct genetic modifications will lead to a new era in gene therapy.

Humans carry between 50 thousand and 100 thousand hereditary factor (Jane), and linked to his health information recorded in these genes, since the gene is responsible for the initial edition of human life, they are assisted in identifying everything, ranging from color his skin and his hair and even the extent of sensitivity towards diseases or resistance to it, as well as the genes in the growth of the body and its functions controlled mainly by providing code, or a program of work could be cells of proteins that you need to accomplish specific tasks manufacturing.

In this regard it revealed a team of international researchers used advanced gene sequencing technology, unveiled a single genetic mutation responsible for a rare brain defect hit families in Turkey for nearly 400 years. This discovery shows the genetic defect, which was reported in two papers in the Bulletin Mencrtin "cell" (cell) growing ability of new tools to detect the causes of the diseases that has baffled doctors in the past.

The researchers said the new discovery helped to provide insight into neurological disorders most common such disease, "Lou Gehrig," known simply as (Aah.al.as), as well as enable the families affected by this gene to conduct genetic tests for parents to ensure their children do not become infected with those disorders. The reports came from the independent teams of scientists, one led by researchers from Baylor College of Medicine and the Austrian Academy of Sciences, and the other led by Yale University and the University of California, San Diego Medical Center and the academic in the Netherlands.

And teams focused on families in eastern Turkey where inbreeding is common. Both teams focused in particular on the families that their children suffer from neurological disorders are not justified, it is likely to be caused by genetic defects. And infants who suffer from this disorder are usually have small brains and distorted and develop a deepening weakness in the muscles and did not speak, and they are exposed to shifts increasingly.

In a related development are still the reasons that necessitate the use of some of the right hand and the left hand on the other, are unclear, but scientists from Britain, they were able to exclude the genetic factor, who said the strong nothing to do with this issue. The researchers said that the study of the genetic map "genome" of four thousand twins, failed to reach a strong Jenny factor, determines whether a person is "Beefoya" or "right-wing".

The researchers said in a study published in the journal "Genetics," that if the hand was used to determine because Jenny obvious factor, it must be noted variables in the special transition between the right hand to the left or vice versa region of the genetic map, and it did not happen. The study contrasts with earlier research, he pointed to the relationship between the hand used, and a network of related genes in determining the right and left of the fetus. The researchers pointed out that any genetic factors, may intervene in determining the hand of the tyrant, it is weak and ineffective dramatically, and talked about the possibility of the presence of several small genetic factors clearly a big factor instead.
road map

In the same context, a large international team of scientists has succeeded in drawing the clearest picture so far of how to organize the work of human genes inside an enormous range of cell types in the human body, an effort that will help researchers monitor the genes associated with the disease. In two major studies published their results in the journal "Nature" The research team, describes how to map a network of conductors within the control RNA (Da.an.aah) in the place and time of operation of the genes shut off from work.

And hired a project launched three years ago and it is called (Phantom 5) under the supervision of "Rekin" Technology Center of Life Sciences in Japan by more than 250 scientists from 20 countries and regions. He said Alistair Forrest scientific coordinator of the project (Phantom 5): "Human organism consists of complex groups of cells composed of 400 original type of cell types. This diversity magnificent images of cells gives us a chance observation, thinking and action and follow-up to fight infection. All of these programmable features within the same genetic crew (the genome). "

The genome is the sum of the genes and genetic information in an organism. Forrest explained that the disparity between the types of cells due to any sector of the genome using these cells. For example, the brain cells use different genes, each different from what you use liver cells, so the work is quite equally. Forrest said: "in the" Phantom 5 "program we discussed for the first time systematically and precisely what genes are used by almost all types of cells in the human body."

The research team addressed the study of the largest group of cells and tissue types in humans and mice so far so that they can determine where the connection points within the genome that activate or inhibit genes work. The research team, detailed maps showing when and where these connectors are active in different cell types, and how they interact with each other.

As David Hume, director of the Roslin Institute of British Edinburgh University and a leading researcher in the program, the semi-matter plane, saying "we have achieved a leap in understanding the function of all the parts, and we have come a long way in this regard in order to understand how they relate to one another and are governed by plug-in that enables the airline."

And despite the fact that it requires further research over the years to come, but the researchers hope it represents a "Phantom 5" Atlas Reference to uncover the mysteries of the genome and identify the functions of various genes and how they work in the field of infection with a variety of diseases from cancer to diabetes, even blood diseases Project and psychiatric disorders. In the context of the study irrelevant hired a research team from the Roslin Institute of the information gleaned from this atlas to uncover how the work of the task group of genes responsible for muscle and bone building.

Another study used Atlas "Phantom 5" project to examine how genes work inside the blood cells, which resulted in the -aly as described by Alalme- blood cells Staanhm map to determine so precisely how the emergence and growth of tumors. Said Forrest: "Now that you provide to have this quantum imaginary detailed pictures of each type of these cells Vbusana now return to the previous research to make a comparison between the cancer cells and those that gave rise to these tumors initially, in order to understand better what occurred in these cells in order to deviate from their original functions, and thus we will be able to devise more effective modern treatments. "
New building blocks

Besides, scientists said on the website of the journal "Nature" Nature that they have taken the first steps on the road to the synthesis of new construction units within the cell nucleus represents an alphabet of life. So far, biologists succeeded in the synthesis of genetic material in the laboratory, but using the same rules that already exist in nature. But Floyd Romsberg, from the research, "Scripps" Institute in California and his colleagues were unable to simply invent two new bases, but they Edjloheme in a single cell organism and found that these synthetic units multiply like the genetic material (DNA or RNA undiminished oxygen Da.an.aah ) natural but at a lower speed.

The scientists said they have made this single cell organisms (which here bacterium E. coli intestinal) multiplied about 24 times over a time frame of 15 hours. A scientist biologist Ross Thayer and Yared Alafsson University of Texas at Austin, in comments reported by the journal "Nature": "This achievement redefines the fundamental features of life." And opens the field of synthetic biology prospects booming to innovate new antibiotics and drugs, but it raises at the same time concern to scientists because it is somehow human intervention in God's creatures by creating a living material may find its way outside the laboratory to the outside world without restrictions to limit the spread.

He Romsberg and his colleagues, the new rules do not exist in the natural environment, so with synthetic genetic material that may escape from the laboratories objects will not last long, not to mention their inability to injury and other objects. In nature, the rules nitrogen component of genetic material five are: adenine and thymine and Alsaitozan and guanine and uracil, which are lined up in pairs, where the queue adenine next to thymine and Alsaitozan along with guanine, and uracil is found only in RNA, "RNA" in the form of a spiral staircase double in the molecule "DNA."

It consists RNA molecule also drunk five, is Alraaboz and a group of phosphates. Nitrogenous bases are involved in the production of proteins, which are long chains of amino acids, necessary for the completion of various biological processes in the organism. The scientists said that the rules Altakliqitin two new names are Romsberg and his team "X and Y" does not share in the production of proteins, but the Tfla They could be in terms of principle.
Genes highlanders

On the other side of the journal "Nature" Scientific said that genes that allow people at the present time adjusting to life on a very high areas inherited from the extinct breed of human beings. There is a copy of the gene (EPAS-1), which affects the oxygen in the blood, are common in the population of the Tibetan Plateau, and most of whom live in areas with an altitude of 4,000 meters throughout the year. And match the DNA sequence of these people with the DNA that was found in one of the extinct ancient human species which are known as "Dinezova" dynasty.

Each human being "Neanderthal" who appeared about 400 thousand years ago and lived in Europe and western Asia even before 35 thousand years, and a man "Dinezova" in the formation of the DNA of the human person has contributed to the current time. And know only "Dinezova" strain through DNA extracted from a small piece of bone belonging to finger a girl, were found during drilling operations down a cave in central Siberia. All that is known about this strain is through that piece of bone that up to the age between 40 thousand and 50 thousand a year, in addition to one of the teeth found someone else.

That piece of bone and helped to know the sequence of the entire Jenny, allowed the scientists comparing the genetic sequence of the contemporary human being in order to reach a better understanding of the heritage of ancient human strains. Currently, the researchers found a link between the gene EPAS1, who intervenes in regulating body's production of Himocalobin- "Dinezova" human strain between. When the body is exposed to these low levels of oxygen in the high altitude areas, sends Jane EPAS1 reference to other genes in the body in order to operate, what stimulates the body's response by producing more red blood cells.

Nielsen said: "If I stepped up and you to towering heights, will happen to us negative physiological effects in the case, and we will find it difficult to breathe, and perhaps suffering from altitude sickness." He added: "After a bit, we will try to compensate for this by producing more red blood cells, but we are not Mtoqlim to live in the highland environment, it may be our response is the inability to adapt, which means that we will produce a very large number of red blood cells." .

But residents of the Tibetan highlands are protected from such risks by producing fewer red blood cells. And discovered Nielsen and his team that picture of Jane EPAS 1 private Tibetan residents in 2010. But the researchers were unable to explain why different picture of this gene on the DNA found in all human beings in the world today sequence, which invited them to examine more ancient genetic sequences.

Nielsen said: "We compared this gene by man" Neanderthal, "but we did not find any match, and then compare it strain" Dinezova ", and were surprised that there is full conformity." Dinezova cave is located in an area with an altitude of 760 meters, an area close to the Altai Mountains that rise more than 3,000 meters. Nielsen said that this example of "clear and direct" to humans acclimated with the new environments in which they move through the genes acquired through mixing with the old breeds of humans.

The synthesis of chromosomes

Besides an international team of scientists has succeeded in the synthesis of chromosome rate of yeast fungus in the latest step in finding the first genome of a synthetic yeast in the world's efforts, a development that could lead to reach for new strains of organisms helps in the production of industrial chemicals, pharmaceuticals and biofuels. Rather than just a simulation of nature has made the research team to replace an extensive renovation in the chromosomal genes to cancel unwanted here and there. Soon after scientists succeeded in the introduction of the chromosome average to living cells of yeast fungus and charged with the new tasks it was not originally present in the natural yeast.

Said Jeff Buick, Anjun from New York University Medical Center, who led the research: "It is the latest chromosome being amended to this extended image and could be synthesized so far." The research was published on the website of the journal "Science" results. While other research has managed teams of the synthesis of the chromosomes of bacteria and DNA viruses (Ar.an.aah), the search Buick is the first that includes a synthetic chromosome and inserted into the eukaryotic organisms, including human cells.

And to ensure this achievement, which took seven years to achieve the use of computer design helped put one of the synthesis of the 16 chromosomes in the cell, yeast fungus, which is known by name scientific "Sakarohmeysas Saarviza." Modified yeast chromosome and the synthetic version is a simplified copy of chromosome III of yeast in their natural form, and scientists chose it specifically because it is the smallest chromosomes, and who controls the fungus multiplies and a different genetic modifications.

Bojkk said, "we demonstrated that yeast cells bearing this natural synthetic chromosome significantly and act almost normal yeast cells similarly, the only difference is that it has new possibilities and can perform tasks that can not by natural yeast." These features can employ to improve the ability of yeast cells to live amid harsh conditions such as the presence of high concentrations of alcohol.

The scholarly research in the field of synthetic biology has raised concern and criticism which says that scientists are manipulating the nature of the components, but the Buick said that research carried out by it or other scholars do not represent any manipulation, and it's just a fight in the fields of genetic engineering on a larger scale. The Buick that the possibility of the production of new synthetic yeast strains that can result in the manufacture of useful kinds of them, and the production of drugs are rare for the treatment of malaria or vaccines for the treatment of inflammation, "Hepatitis B", as well as making biofuels more efficiently such as alcohol, butanol and biodiesel. And plans to laboratories in the United States, Britain, China and India, the production of synthetic chromosomes of all yeast chromosomes, number 16 and no later than 2017 

by : ahmed guezzini

    codified and researcher in thought, culture and the World. .



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