Dilated cardiomyopathy (DCM) is characterized by dilation of the left ventricle or double ventricle with impaired systolic function, and has a great impact on cardiac function. Most DCM individuals have a lower survival rate within 5 to 10 years after onset (30% to 40%). The pathogenesis of DCM is abnormality of control genes of cardiomyocytes, viral infection and immune system defects & dysfunction. These factors can cause damage to stromal cells in the fibrous framework of the ventricular wall, and followed by gradual degeneration, necrosis, extracellular edema of cardiomyocytes, finally whole-heart enlargement, cardiac function decline and heart failure.
DCM caused by genetic factors accounts for about 30-50%. There are four genetic modes: autosomal dominant inheritance, autosomal recessive inheritance, sex chromosome linkage inheritance and mitochondrial inheritance. Among them, autosomal dominant inheritance is most common. Many genes related to DCM have been reported. Dystrophin (encoded by DMD) is a protein in muscle cells that transmits contractile force to extracellular protein scaffolds. The C-terminus is linked to the basal layer of the extracellular membrane via a DCM-related protein, and the N-terminus is linked to the intracellular cytoskeletal protein F-actin. Dystrophin acts the connect between the myofilament and the extracellular matrix. The abnormality of DMD gene is the main cause of x-linked DCM. In cardiomyocytes, cardiac actin (encoded by ACTC1) is a major component of the thin filaments in the sarcomere. ACTC1 is the main pathogenic gene in autosomal dominant inheritance. The desmin (encoded by DES) is a specific intermediate filament protein in muscle. The DES gene is a candidate gene for autosomal dominant DCM. Mutations in other genes related to sarcomere, such as TPM1, TNNT2, TNNC1, TNNI3, MYH7 and MYBPC3, may lead to an increased risk of DCM. In addition, the mutations in SCN5A that encodes voltage-gated sodium channels in human cardiomyocytes, can directly lead to abnormalities of sodium channels in cardiomyocytes and induce various arrhythmias. See the gene list for more genes related to DCM.
To support researches related to dilated cardiomyopathy, we provide a custom dilated cardiomyopathy panel platform that offers a comprehensive dilated cardiomyopathy library. You can select the dilated cardiomyopathy-associated genes from it. Targeted DNA sequencing technology that enables deep sequencing at high coverage levels is provided.
For more information about the Custom Dilated Cardiomyopathy Panel or need other amplification requirements, please contact us.