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.
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.
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