6. Restrictive cardiomyopathy gene variants network

Cardiomyopathies represent a rare group of disorders often of genetic origin. While approximately 50% of genetic causes are known for other types of cardiomyopathies, the genetic spectrum of restrictive cardiomyopathy (RCM) is largely unknown. The aim of the present study was to identify the genetic background of idiopathic RCM and to compile the obtained genetic variants to the novel signalling pathways using in silico protein network analysis. To understand the interaction landscape of the genes mutated in RCM patients, a tightly connected interaction network with 36 proteins corresponding to the genes described in this study was created. Including 30 interlinking proteins the network consists of 66 proteins connected by 124 interactions. Out of the 124 physical and regulatory interactions considered here 38 and 33 were supported by experiments performed in cardiac and other types of muscle cells, respectively. Most proteins of the network belong to one of four functional groups: (i) sarcomeric proteins, (ii) mechanosensing and Z-line structures, (iii) nuclear membrane. The most interconnected protein is the plasma membrane protein ILK, which is involved in physical and regulatory interactions with 16 other proteins. (PMID: 27662471)

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