Tuesday , May 30 2023

Doctor Pampean discovered the gene that causes sudden death


A Spanish-based Argentinean physician conducted an international research that managed to locate a new gene and relate it to the development of hypertrophic cardiomyopathy, a hereditary disease associated with sudden death. He is Juan Pablo Ochoa, a 42-year-old doctor who was born in La Pampa but moved to Trenque Lauquen three years later, where he lived until he went to live in Lanus to study medicine at La Plata University. Since 2014 he is based in Galicia, where he works for a healthcare company and a hospital.
The results of the project headed by Ochoa were published in the Journal of the American College of Cardiology (JACC), a journal that highlighted the importance of discovery since in half cases the reasons for hypertrophic cardiomyopathy are unknown. "With this significant advance, the ignorance rate will be about 5% less," the doctor said in a telephone conversation with journalist José María Costa, La Nación, who announced the first news.
More than 40 health centers in Spain participated in the study, as well as two centers in the UK and Denmark. "This gene was not linked to the disease," said Ochoa in his Twitter account. "There was also no evidence to link this gene to hypertrophic cardiomyopathy."
The investigation began when "we found four different families from a small town in Murcia, Spain," Pampeano said in a telephone conversation with La Nación. The city has less than 30 thousand inhabitants and by locating the family trees of the locals, they found that most of them had a common ancestor seven generations ago. We then detected the mutation in 30 families and continued for a long time. Thus, we can associate the FHOD3 gene with hypertrophic cardiomyopathy. "

Common diseases
Hypertrophic cardiomyopathy is the most common hereditary heart disease, affecting 1 in 500 people. Its presence is associated with an increased risk of cardiovascular problems: sudden death and heart failure. It also aggravates the quality of life of patients due to the symptoms they present.
The disease occurs because mutations in the genes are important for the growth of the cardiac muscle that causes it to increase disproportionately. This is known as hypertrophy. Despite scientific advances, in more than half of the patients the genetic cause of the disease can not be detected at this time.
"The young athletes who have a sudden death, in many cases, are because they have hypertrophic cardiomyopathy, which is the most common cause of death in people under 35. After this age (the most common cause) is the heart attack," he explained. The professional.
Ochoa, trained at the University of La Plata and qualified at the Favaloro Foundation, added: "Anyone suffering from it has a higher risk of arrhythmia and has the symptoms of dyspnoea (dyspnoea), others are asymptomatic and are detected when they go into control and observe that the thickness of the heart is growing. "

A new gene
The work that Ooho headed for the Health Company in the Galician Code, linked to the Juan Canalejo Chuac Hospital, is new because it allowed to discover a new gene and this would account for between 2 and 4% of the causes of hypertrophic cardiomyopathies " , said Ochoa. "It seems a bit, but it's very much because half of the people suffering from it have no diagnosis," he said.
The cardiologist said that the most important thing in the project is not the scientific size but the practical application. "Although the publication is born out of experience in cardiovascular genetics, what it seeks is to provide answers that contribute to clinical management of patients, ie to transform knowledge into personalized medicine that will be applied to every patient in particular, and especially to their relatives ".
These will benefit from detection strategies to detect those who are at risk or have not taken the disease before they clinically occur, "the doctor concluded on the other side of the phone.

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