Genes, diseases and treatments

Greek scientists have recently announced the discovery of the gene fosfolamvanis, which is involved in heart failure. What it means for patients to discover genes associated with diseases; opens the way to cure them?

There would be no exaggeration to say that last move in orbit genes: fifty years after the elucidation of the structure of DNA (the material of which genes are made) and only a few days after the announcement of the completion of the human genome (the reading, ie, the entire DNA sequence of humans), is drowned by information on new genes discovered. What does all this but us? And specifically what it means for patients to discover genes associated with diseases; leads the discovery of such genes to treat disease and what should we hope? Following the recent announcement by Greek scientists to discovery of the gene fosfolamvanis, which is involved in heart failure, «To Vima» explains today with seven questions and answers of the possibilities opened by the knowledge of genes to diseases.


1. What is the disease gene?
These genes are neither health nor disease! These DNA segments in the sequence of which contained information on the composition of proteins, molecules that play a variety of significant structural and functional, the roles in the cell. When genes are sound, the proteins synthesized under instructions perform their role. Thus the cell and the organism is healthy. But there are cases where genes have undergone changes (mutations in the language of biology). Then, depending on the type of mutation, the protein or cease to be synthesized or synthesized by the damage which is preventing it from operating. For example, when the gene of beta-hemoglobin is normal, the protein (ie, the beta-hemoglobin) that makes up red blood cells capable of carrying oxygen. A slight mutation in the hemoglobin gene, however, is the cause of the improper composition of the protein and cause of thalassemia. In other words, has prevailed to genes known disease genes whose mutations lead to the emergence of heritable diseases.

2. What then describe the type of news: «The scientists discovered the gene of one disease»;

They describe the discovery of genes whose mutations lead to the emergence of the disease.

3. How important is the discovery of such genes?
It is very important because it allows researchers to deepen the causes of diseases. The understanding at the molecular and cellular level the mechanism by which it caused a disease opens the way for effective intervention. Take for example the recent announcement by Greek scientists at the University of Cincinnati and Onassis Cardiac Surgery Center on the discovery of mutations in the gene fosfolamvanis in a patient with heart failure. Multi experiments on animals had shown that this protein plays a role in the regulation of myocardial contraction is brought with the help of calcium ions. As explained in speaking «Step» Mrs Evangelia Helmets, Professor of Pharmacology at the University of Cincinnati, which has contributed decisively to the clarification of the role of fosfolamvanis, «the elucidation of the mechanism by which the action fosfolamvanis will enable better management of patients with heart failure ».

4. How quickly patients benefit from the discoveries of genes?
The speed with which knowledge of genes associated with disease converted to a benefit for the patient depends on many factors. We have known for many years and the mutation of the gene of hemoglobin which is responsible for thalassemia, but we have not cure the disease. We can however take steps to prevent the occurrence of subsequent generations. Usually the first thing that can happen after the discovery of a gene associated with the occurrence of disease is to develop diagnostic tests for the disease.

5. What is the diagnostic test?
It is a discussion which explores whether the candidate carries the mutation that would render the patient. It should be noted that in contrast to thalassemia, which the symptoms occur very soon after birth, there are hereditary diseases that occur at older ages.

6. Who should use these tests?
A bad family history is the light in which doctors decide if someone needs to take a diagnostic test to detect mutations. In very few cases such tests are routine for much of the population. For example, in our country, that thalassemia is a scourge, an examination of married to determine if they were bodies of disease, as well as the examination of embryos is necessary to prevent births of children with the disease. Criterion for the wide application of the test is the frequency of mutation in the population.

7. Why not have a cure thalassemia because we know the gene that when mutated causes There are other hereditary diseases are treated;

The only way to be cured a hereditary disease would be to replace the mutated gene that causes a standard. Such intervention, which is called gene therapy, it is not easy, as many scientists who attempted to treat a number of hereditary diseases. The biggest success has been achieved to date refers to a disease of the immune system which makes the children suffer from it so vulnerable to infections that may have to live in a sterile environment. A small number of children has been treated with gene therapy, while others had leukemia as a side effect of treatment ... It should however be noted that the ongoing efforts of the scientists on many fronts. The research team succeeded Mrs Helmets to restore the contraction of heart cells in test tube epemvainontas in the fosfolamvanis gene, which is the first step in probably a long way for gene therapy of the disease.

Geneticists have discovered a gene which "block" of the AIDS virus and possibly lead to the deal.

The news was announced 5 days before and on 29 February. The news stated that Stephen Barr and his team from the University of Alberta in Canada, after studies found a gene that is able to block the spread of AIDS virus in the body and disease. The importance of the discovery are enormous, because it may mean the capability to manufacture a vaccine for the virus in the future ...

The professor and his team discovered a gene TRIM22, which has managed to prevent contamination of cell culture in the laboratory from HIV AIDS. It was when the gene in cells, the virus could not be replicated, and also prevented to go and infect other cells. This essentially means that even if an infected cell the virus stops spreading there, and not the rest of body.

In simple words, if researchers manage and develop the technique to be applicable to humans (ie to activate the gene in some way, even pharmaceuticals), then this would mean constructing physical defense against the virus, without the unpleasant side effects drugs or the manufacture of medicines will do the same job without having to be hazardous.

The researchers report that among other things, as many genes as humans have to protect the body from viruses and help to combat them, the gene has a strong preference in dealing with HIV AIDS.

The biggest problem scientists regarding the battle with the AIDS virus for years (and what it prevents than to build a successful vaccine) is that the virus mutate so easily be resistant against medicines made by time. With this gene, essentially found a new weapon that can do the job fighting the virus naturally.

The research scientists went one step further by trying to block the function of this gene in cells. This resulted in the cell to react to the virus but (as usual) the production of interferon, but the reaction was not the slightest effect. What does this mean that practically the gene is certainly a special relationship with HIV and AIDS need to address it. The body from which it seems has an own way to respond to the incursion of the virus. What we think eistimones is to replicate the function and mode of action of the gene TRIM22 with a drug.

Under investigation are open and two other "hot" questions:

"Why if the gene is located in the body of all people, in patients with AIDS is not working?"

And also:

"I can now activate this gene in these patients to take action?"

Search fee and the possibility of dealing and other viruses with the same gene.

Pending developments, therefore, very interesting ...

The findings were published in Public Library of Science Pathogens

Gene discovery opens the way for cigarettes without nicotine

Japanese scientists announced that they isolated a gene, which carries the nicotine from the roots of the tobacco plant leaves, thus opening the way for the creation of cigarettes without nicotine, which is less addictive, but it will remind regular cigarette. The research done by Professor Kazoufoumi Giazaki, molecular biologist, in plants, at the University of Kyoto, which took three years to identify the gene Nt-JAT1, which is the carrier of nicotine.

As stated, according to British newspaper Daily Telegraph, the objective now is to create a cigarette that has always known the taste, but it is much less addictive.

The next step will be to grow tobacco plants that will not have any nicotine in the leaves, but admits that there are still open issues to be resolved, for example, the possibility of blocking the transfer of nicotine in leaves lead to concentration of cells in the roots, which could be toxic to the plant itself.

Japan has a relatively high percentage of smokers, with rates around 40% in men and 13% in women, according to data of 2008. According to government statistics, more than 63,000 people die each year in the country of lung cancer. Professor Giazaki, he is not a smoker, hopes his investigation will try to help people stop smoking. The scientist, in order to finance his experiments, did not rule to require the assistance of Japan Tobacco, the largest Japanese tobacco.

Major new discovery of genes that predispose for severe disease

New chapter opens in history of medicine, as researchers announced the discovery of new genes associated with serious diseases. The new discovery is published in the journal 'Nature' and is expected to pave the way for further research and treatment of genetic test.

Researchers examining the DNA of blood 17,000 people, found that genes contribute to the onset of depression, diabetes, disease of Crohn, rheumatoid arthritis, hypertension and coronary disease.

The research team emphasizes that the discovery of genes that contribute to the emergence of serious diseases research will lead scientists to better understand the mechanism of disease, identify people at risk to develop, and will shortly be able to develop more effective and personalized medicines.

As stated, many of the most common diseases are very complex and depend on genetic and environmental factors in combination with lifestyle.

Scientists said that although in the past had little lights turn to the long dark tunnel of the genome, now turn lights in many parts of the tunnel, in this case half a million lights.

In case 1 diabetes gene discovered several areas that increase the risk of disease. The researchers of the project took part in the recent announcements of the discovery of obesity gene, three new genes linked to diabetes 2 and region of chromosome 9 associated with heart disease.

One of the most important discoveries is that a gene that was previously unknown is common and the emergence of diabetes and 1 in disease Chron, an inflammatory bowel disease, indicating that the two diseases share common biological pathways.

Many of the genes discovered by a team of 200 scientists were in parts of the genome not previously been regarded as potentially linked to illnesses.

In the future could allow people to look for combinations of genes to predict the risk they face in their entire lives to outbreaks of disease, which will lead them to change their lifestyles or be considered timely.

Professor of Statistics, Peter Donnelly, who took part in the investigation, said that the investigation is a new beginning and that researchers have learned more the past 12 months than they had learned the previous 15 years.

Science: Discovery of gene could help treat blindness

LONDON . Scientists have to find a «mutant» gene, which is directly linked to the most common causes of blindness in the developed world, creating hope even for the whole treatment of the disease.

British scientists said that they found six variants of this gene, which they call "Serping 1" and, related to the degeneration caused to spot (eye) - is called "AMD", due to advanced age. As stress characteristics: «The discoveries are helping us to better understand the genetic surrounding the degeneration induced in cells with age, which should lead to new methods of treatment of normal and« limited »disease» underlined Sarah and Andrew Enis higher, from the University of Southampton in the newspaper «Lanset».

The "AMD", which causes damage to sensitive cells of the plume in a region located in the center of the retina, usually develops when a person grows. A proportion of 90% of patients found to suffer from "AMD", is called «dry-version» of the disease, but for which no treatment is not currently available.

The others are the «wet» form, found in minutes Red pots to grow between the retina and the back of the eye. This form of the disease can be treated with modern medicines.

Gene Discovery

A pioneering discovery Italian researchers overturning the scientific view that the sex of the child is determined only by the man.

The Italian scientists discovered a gene-gender and women, which even if the mutation converts male to female fetuses. This will try to do as they say the researchers, in mouse embryos.

Meanwhile, Greek scientists stress that can change sex in animal embryos, however pointed out that it is morally unacceptable that this applied to human embryos.

Gene discovery may help prevent asthma

British scientists discovered a gene that can prevent allergy that triggers the illness and pain especially at this time a large proportion of the world's population.

The gene, named PHF-11, appears to regulate the blood cells that produce antibodies that are directly related to asthma. The discovery of the gene provides a new target for drugs designed to «erase» the immunoglobulin E antibody to prevent asthma.

The gene was discovered in the laboratories of Wellcome Trust Centre for Human Genetics in Oxford by Dr teachers. And Dr Miriam Mofat. William Koukson.

Dr. Koukson said: «The discovery of this gene adds a new dimension to the understanding of asthma and other allergic diseases, but has not yet been fully completed. There are at least ten genes that have a significant impact on a person's susceptibility to asthma and more genes with smaller effects ».

The survey, which lasted more than six years, attended by more doctors and scientists. The survey results were published in the online edition of the scientific form Nature Genetics.