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

Mitochondrial dysfunction in ACM pathogenesis. 

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Chiara Volani

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MITOACM

MAGAZINE Science Stories that Inspire

Free of symptoms but not of fears

Molecule identified that could counteract arrhythmogenic cardiomyopathy

Chiara Volani

Projects

Project

MITOACM

MAGAZINE Science Stories that Inspire

Free of symptoms but not of fearsself.__wrap_b(":Rjqldabjlm:",1)

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

Free of symptoms but not of fears

Molecule identified that could counteract arrhythmogenic cardiomyopathy