There are genetic mutations that definitely result in a condition or disease, for example albinism and cystic fibrosis. But in the case of many diseases there are those who, despite inheriting a particular genetic mutation, do not get sick. This is called incomplete penetrance. Eurac Research's cardiovascular research group is investigating the dynamics of arrhythmogenic cardiomyopathy , beginning with a representative case study.

Incomplete penetrance in genetic diseases and arrhythmogenic cardiomyopathy

Free of symptoms but not of fears 

MB-3 is a synthetic, lab-created molecule used to limit the activity of the enzyme GCN5 which reduces the accumulation of fat in heart cells that characterize arrhythmogenic cardiomyopathy – a disease that has affected young sportsmen such as Livorno soccer player Piermario Morosini and Asiago field hockey player Darcy Robinson. The discovery by a team of biologists from Eurac Research comes after several years of research in collaboration with the Medical University of Innsbruck, the Monzino Cardiology Center and the University of Milan.

Molecule identified that could counteract arrhythmogenic cardiomyopathy

La quotidianità in corsia è fatta di esami e interventi chirurgici i cui dati arricchiscono le statistiche per la ricerca. Il futuro della medicina si costruisce in laboratorio, grazie alle cellule staminali e agli studi epidemiologici. Quanto sappiamo oggi sulle aritmie? Come si curano? A che punto è la ricerca? Lo raccontano un cardiologo e una ricercatrice.  

Per curarle, ricerca e clinica lavorano insieme

Aritmie

Mitochondrial dysfunction in ACM pathogenesis. 

Cardiac fibrosis in hypertrophic cardiomyopathy: elucidating the
role of cardiac fibroblasts

Innovative therapies for cardiovascular disease.

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Marzia De Bortoli

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MAGAZINE Science Stories that Inspire

Free of symptoms but not of fears

Aritmie

Molecule identified that could counteract arrhythmogenic cardiomyopathy

Marzia De Bortoli

Projects

Project

MITOACM

Project

HYPER-FIBRO

Project

INCardio

MAGAZINE Science Stories that Inspire

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Molecule identified that could counteract arrhythmogenic cardiomyopathyself.__wrap_b(":Rjqllabjlm:",1)

Free of symptoms but not of fears

Aritmie

Molecule identified that could counteract arrhythmogenic cardiomyopathy