Comprehensive cardiomyopathy includes a group of hereditary heterogeneous diseases, the most common of which are dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), left ventricular densification (LVNC) and arrhythmogenic right ventricular cardiomyopathy (ARVC). These diseases can affect all age groups, and the prevalence of these diseases is estimated to be about 0.2%. The new generation of sequencing tests is designed to detect mutations in 205 genes coding regions associated with cardiomyopathy. New research shows that about 205 genes encode desmosome, adherens junction, cytoskeletal proteins, ion transport proteins and cytokine. Mutations in these genes are involved in comprehensive cardiomyopathy.
The protein encoded by ABCC9 is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport a variety of molecules across cellular membranes. This protein is supposed to form ATP-sensitive potassium channels in cardiac, vascular and non-vascular smooth muscle. The structure of ABC proteins suggests that it plays a role in the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in ABCC9 are associated with cardiomyopathy dilated type 1O. The protein encoded by ACTC1 (actin alpha cardiac muscle 1) belongs to the actin family which includes three main groups of actin isoforms, alpha, beta and gamma. Alpha actins are found in muscle tissues and are key components of the contractile apparatus. Mutations in ACTC1 have been involved with familial hypertrophic cardiomyopathy (FHC) and idiopathic dilated cardiomyopathy (IDC). Troponin is the central regulatory protein of striated muscle contraction. It is located on actin filaments together with tropomyosin. Troponin consists of three subunits: TnI, which can inhibit actomyosin ATPase; TnT, containing tropomyosin binding sites; TnC, a protein encoded by TNNC1. The combination of calcium and TnC eliminates the inhibitory effect of TnI, so that actin interacts with myosin, and ATP hydrolyzes to generate tension. Mutations in TNNC1 are associated with cardiomyopathy dilated type 1Z. TNNI3 encodes TnI- cardiac protein which is expressed only in cardiac tissue. Mutations in TNNI3 cause familial restrictive cardiomyopathy (RCM) and familial hypertrophic cardiomyopathy type 7 (CMH7). Mutations in TNNT2 are associated with familial hypertrophic cardiomyopathy and dilated cardiomyopathy.
Our company provides a custom comprehensive cardiomyopathy panel containing optimized genes that are related to the increased risk of cardiomyopathy. You can select the genes only you require to customize your panel. Targeted enrichment technology by the Illumina MiSeq system is provided to efficiently discover, validate and screen genetic variants among the comprehensive cardiomyopathy-related genes.
(Download the comprehensive cardiomyopathy gene list for more genes)
For more information about the Custom Comprehensive Cardiomyopathy Panel or need other amplification requirements, please contact us.