Heart disease is serious and affects children, as a percentage of born on 2500, is due to a severe cardiac malformation: The Noonan syndrome which leads, inexorably, to hypertrophic cardiomyopathy, because very often death.
The solution to this serious problem, which seriously attentive to the health of children, appears on the horizon and is represented by a gene isolated in Italy by Istituto Superiore di Sanità captaincy from Mark Tartaglia in collaboration with researchers from the Mount of Bruce Gelb Sinai School of Medicine in New York and published in the August issue of Nature Genetics.
The gene responsible for the disease is called RAF 1 and its identification will allow to catalog the patients most at risk, and this will also suggest, in a short time, any medications that can actually speak on the condition.
The research was funded with the support of Telethon from a project that also saw the collaboration of the United States.
Although they speak little, the Noonan syndrome, is second only to Down's syndrome, for being associated with cardiovascular disease and has certain features that allow physicians to locate it with ease.
In fact, children suffering from this disorder have characteristic features such as short stature and alteration of the shapes of eyes, ears, nose, mouth and neck, not always on dimorfismi are all together.
The study, recently carried out, compared with similar scientific work of the past, has the characteristic of continuing the path made by scientists over 5 years ago, when studying the Noonan syndrome, had isolated the first gene, which was followed by two other genes further, reaching the identification, which would seem to act in the most complete, with the discovery of the gene Raf 1st Since this gene appears to affect development and cell differentiation in the subject concerned, the greatest damage would occur at the level of the heart muscle that will fall ill to the point of interference on normal activities of the body that would increase the thickness dramatically affect up to of all its functions.
There are also less aggressive forms of Noonan's syndrome and are those for which it is provided drug therapy, while in more severe cases, the only way forward now is a heart transplant.
The discovery of this new gene will allow for the research to the study of drugs to cope with the disease even in the most serious as the teacher refers Marco Tartaglia, "I heart defects are the leading cause of death in early childhood.
4 So far we have identified genes involved in Noonan syndrome, but for 35 percent of patients the origin of the disease remains unanswered.
The next steps will be designed to identify these disease genes, the molecular understanding of the causes and development of new therapies.
We have in the yard lines of research very promising, but some are still awaiting funding.
"
The solution to this serious problem, which seriously attentive to the health of children, appears on the horizon and is represented by a gene isolated in Italy by Istituto Superiore di Sanità captaincy from Mark Tartaglia in collaboration with researchers from the Mount of Bruce Gelb Sinai School of Medicine in New York and published in the August issue of Nature Genetics.
The gene responsible for the disease is called RAF 1 and its identification will allow to catalog the patients most at risk, and this will also suggest, in a short time, any medications that can actually speak on the condition.
The research was funded with the support of Telethon from a project that also saw the collaboration of the United States.
Although they speak little, the Noonan syndrome, is second only to Down's syndrome, for being associated with cardiovascular disease and has certain features that allow physicians to locate it with ease.
In fact, children suffering from this disorder have characteristic features such as short stature and alteration of the shapes of eyes, ears, nose, mouth and neck, not always on dimorfismi are all together.
The study, recently carried out, compared with similar scientific work of the past, has the characteristic of continuing the path made by scientists over 5 years ago, when studying the Noonan syndrome, had isolated the first gene, which was followed by two other genes further, reaching the identification, which would seem to act in the most complete, with the discovery of the gene Raf 1st Since this gene appears to affect development and cell differentiation in the subject concerned, the greatest damage would occur at the level of the heart muscle that will fall ill to the point of interference on normal activities of the body that would increase the thickness dramatically affect up to of all its functions.
There are also less aggressive forms of Noonan's syndrome and are those for which it is provided drug therapy, while in more severe cases, the only way forward now is a heart transplant.
The discovery of this new gene will allow for the research to the study of drugs to cope with the disease even in the most serious as the teacher refers Marco Tartaglia, "I heart defects are the leading cause of death in early childhood.
4 So far we have identified genes involved in Noonan syndrome, but for 35 percent of patients the origin of the disease remains unanswered.
The next steps will be designed to identify these disease genes, the molecular understanding of the causes and development of new therapies.
We have in the yard lines of research very promising, but some are still awaiting funding.
"
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