Monthly Archives: February 2015

Detecting a gene facilitate handling a very common family disease

From this time it is easier to identify people with dilated cardiomyopathy, a type of familial disease that is estimated to affect one in 250 people and offer the most appropriate treatment. Thanks to British scientists, physicians are able to locate more precisely the genetic mutations in the Titin gene causing the disease of the heart, which will pave the way for a diagnosis more necessary in these people.

For a long time mutations in this gene has been linked with dilated cardiomyopathy. However this gene is the most important of those identified in the development of this pathology in particular, but in many times its mutations were not pathological.

The data published in “Science Translational Medicine” solve a problem for cardiologists and open the door to design tailored treatments for these patients. It is information about what mutations are those that indicate that a person has an increased risk of dilated cardiomyopathy. It allows to do something similar to what is done in cancer – a more individualized patient management and targeted therapy for each case. It also gives an opportunity to provide a family monitoring and diagnose more quickly to those members who are carriers of the mutation.

Dilated cardiomyopathy is a disease characterized by progressive weakening and thickening of the heart muscle and can lead to heart failure and premature death. It is a genetically complex disease, as it is associated with variations in at least 40 genes, but in 50-60% of cases may have unknown origin, when young patient has the heart transplantation after of myocardial infarction.

Thanks to advances in molecular diagnostic systems, researchers sequenced the titin gene of 5,267 people, including healthy volunteers and patients with dilated cardiomyopathy, and analyzed the levels of the gene in tissue samples from the heart. And the data showed that this disease causing mutations occur at the end of the gene sequence, whereas in healthy volunteers, mutations tend to occur in areas of the gene that are not at the end of the protein, allowing follow gene remain functional. Mutations in the titin gene that render the protein is shorter or truncated. This is the most common cause of this disease. However, the truncation in the gene are common – about one in 50 people has one, and most of them are not harmful, so it was difficult to develop a useful genetic test to identify these patients.

Thanks to this data scientists now have a detailed understanding of the molecular basis of dilated cardiomyopathy and may use this information to detect relatives of patients and thus identify those at risk of developing the disease. In this sense this research will benefit patients with this disease.

The difficulties to investigate mutations of this protein is that they lay in one of the greatest human proteins. The study provides, for the first time, a complete list of mutations in the gene of titin; ie, which are associated with dilated cardiomyopathy and which are harmless, information that will be invaluable to the correct diagnosis and future treatment.