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Scientists said on Monday they discovered the genes that cause pulmonary arterial hypertension, a disease that kills 50% of patients who suffer from it in less than five years.
According to the researchers, although the consequences of the disease were known, very little was known about what caused this condition in some of these patients, who in many cases could only save their lives with a lung or heart transplant.
“By identifying the nature of these genes and their mutation in new genes, you can know what causes the disease,” Nick Morell , of the British Heart Foundation, who led the research , told the BBC .
“This will allow us to design and present potential proposals in the treatment of this disease, because you already have a broad knowledge about what is really causing the disease when you encounter these mutations,” he added.
As Morell pointed out, these findings can lead to early detection of the disease and improve current treatments.
What is pulmonary arterial hypertension?
Pulmonary arterial hypertension (PAH) currently affects between 15 and 50 people out of one million in the world and causes the arteries that carry blood from the heart to the lungs to harden and close, which can cause heart failure.
In most cases it is diagnosed in people who have heart or lung problems, but in some cases there is no clear reason for their origin.
Although transplantation is the main “cure” of the disease, the truth is that in most patients the transplant is not successful, especially in the case of the lungs.
For the finding, published in the scientific journal Nature Communication , the researchers carried out the largest genetic study of the disease so far, in which they analyzed the genetic sequence of at least 1,000 people with PAH in whom the origin of the disease was unknown. .
And they found that mutations in five genes were responsible for the disease. These include four genes that were not known to be involved in the cause of PAH .
In people with this condition, these genes fail to effectively produce the proteins that are required for the structure, function, regulation and function of body tissues.
“People should be more aware of this disease”
A Wendy Callaghan was diagnosed PAH in 2013 after doctors were concerned for their consistent chest infections.
Her sister had died of the same disease 27 years ago, when she was only 36 years old, like her grandmother, who had died due to a similar heart condition.
A Callaghan, who participated in the investigation, was i nformó suffering genetic version of the disease and now wants to know whether her daughters and grandchildren inherited.
“Even children can suffer, people should be more aware of this disease and insist on diagnosis if they think their child is not well,” Callaghan told the BBC.
The research was part of a large study of the 100,000 Genome Project , an initiative that is focused on understanding the genetics of cancer and other rare diseases.
Morell said that this type of large genetic studies are helping to transform our understanding of diseases.
” Often people with rare diseases go to many specialists, who try to arrive at an accurate diagnosis , but who really do not know what is the cause of that disease, so it is very difficult to find an adequate treatment,” he noted.
“Now that we are able to analyze the genetic sequence of a patient with a rare disease will allow us to take the genetics to hospitals and families, which potentially enable us to do something about it,” he added.