CREB researchers involved in the cardiac pathologies characterization of the Hutchinson-Gilford disease
A study on Hutchinson-Gilford disease (HGPS), coordinated by the National Center for Cardiovascular Research Carlos III (CNIC) and involving researchers from the Center for Research in Biomedical Engineering (CREB) of the Universitat Politècnica de Catalunya (UPC) Wants to contribute in the detection of anomalies in the heart of patients affected with this pathology. The study, published recently in the journal The Proceedings of the National Academy of Sciences (PNAS) aims to open new lines of research for the development of therapies that can correct the defects that characterize the disease.
Raúl Benítez, member of CREB, part of the Center for Innovation and Technology (CIT UPC), and researcher in the Department of Systems Engineering, UPC and UPC, and the doctoral student and associate professor of the same Department, Àlex Vallmitjana, Both linked to the School of Engineering of Barcelona Este (EEBE), have been in charge of the detection of irregular patterns in the release of calcium from the cardiac cells from the analysis of fluorescence microscopy images. With them, has also collaborated the researcher Leif Hove-Madsen, of the Institute of Cardiovascular Sciences of Catalonia (ICCC).
As Benitez explains, "calcium is a relevant ion in the functioning of the heart, because it is responsible for the electromechanical coupling through a known mechanism of excitation-contraction" and, therefore, the study of this chemical element is key to To detect abnormalities in heart disease. Thanks to this fact, they have been able to detect anomalous behavior patterns from different indicators such as, for example, the electrocardiographic signal morphology, the greater presence of ventricular arrhythmia phenomena, alterations in the connectivity of cardiac tissue or In the dynamics of intracellular calcium.
The study demonstrates, for the first time, the presence of similar cardiac abnormalities in 15 HGPS patients. It is a progressive development of electrocardiogram abnormalities that appear to be related to an increased risk of arrhythmias and even lead to premature death.
About the disease
At the beginning of the 20th century Jonathan Hutchinson and Hastings Gilford gave name and also explanation to a pathology hitherto unexplained. Also known as progeria, Hutchinson-Gilford (HPGS) is a rare genetic disease - just one in 21 million births - caused by a mutation in the LMNA gene that causes accelerated and early aging in infants.
This pathology, which is still incurable today, affects boys and girls who, at 18 months of age and despite having a normal fetal development and being born with a totally healthy appearance, begin to show symptoms of premature aging.
More information: Jordi Martín
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