Individuals worldwide, which is characterized by unexplained left Young athletes, HCM is the most common type of inheritedĬardiomyopathy with a morbidity rate of approximately 1 in 500 The leading cause of sudden cardiac death (SCD) in adolescents and ( 9– 14), Tax-1-binding protein ( 15) and the RAS-mitogen-activated Remodeling proteins ( 6– 8), cardiac transcription factors ( 3– 5), cardiac development and structural Proteins, cytoskeletal proteins and nuclear envelope proteins Mutations in the genes encoding the following: cardiac sarcomere Have been found in over 100 disease-causing genes, including Genetic heterogeneity inherited cardiomyopathy-linked mutations Morphology and function: hypertrophic cardiomyopathy (HCM), dilatedĬardiomyopathy (DCM), arrhythmogenic right ventricularĬardiomyopathy (ARVC) and restrictive cardiomyopathy (RCM) Inherited cardiomyopathies are divided into theįollowing 4 categories according to alterations in ventricular Furthermore, our findings indicated that sequencing using the Ion Torrent PGM system is a useful approach for the identification of pathogenic mutations associated with inherited cardiomyopathy, and it may be used for the risk evaluation of individuals with a possible susceptibility to inherited cardiomyopathy. The mutations identified in this study may be further investigated in the future in order to improve the diagnosis and treatment of patients with inherited cardiomyopathy. Taken together, these findings provide insight into the molecular mechanisms underlying inherited cardiomyopathy. This patient provided us with more information regarding the genotype-phenotype correlation between mutations of MYH7 and PRKAG2. #GENE CONSTRUCTION KIT TORRENT PLUS#Moreover, a double heterozygous mutation (PRKAG2, p.Gly100Ser plus MYH7, p.Arg719Trp) was identified in a patient with severe familial HCM, for the first time to the best of our knowledge. These 2 missense mutations, which were absent in the samples obtained from the 200 healthy control subjects, altered the amino acid that was evolutionarily conserved among a number of vertebrate species this illustrates that these 2 non-synonymous mutations play a role in the pathogenesis of HCM. As a result, a novel heterozygous mutation (MYH7, p.Asn885Thr) and a variant of uncertain significance (TNNT2, p.Arg296His) were identified in 2 patients with HCM. #GENE CONSTRUCTION KIT TORRENT TORRENT#In the present study, the entire coding sequences and flanking regions of 12 major disease (cardiomyopathy)-related genes in 8 patients with dilated cardiomyopathy (DCM) and in 8 patients with hypertrophic cardiomyopathy (HCM) were amplified and then sequenced using the Ion Torrent Personal Genome Machine (PGM) system. Early diagnosis is conducive to clinical monitoring and allows for presymptomatic interventions as needed. The disease is associated with extensive genetic heterogeneity pathogenic mutations in cardiac sarcomere protein genes, cytoskeletal protein genes and nuclear envelope protein genes have been linked to its etiology. Inherited cardiomyopathy is the major cause of sudden cardiac death (SCD) and heart failure (HF).
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