Screening for truncating mutations in TTN could help diagnose dilated cardiomyopathy, a weakening of the cardiac muscle that can lead to congestive heart failure. Further details on the research, next steps and licensing status are discussed in the article.SciBX: Science-Business eXchangedoi:10.1038/scibx.2012.350None
For decades, researchers have sought a genetic explanation for idiopathic dilated cardiomyopathy (DCM), a weakening and enlargement of the heart that puts an estimated 1.6 million Americans at risk of heart failure each year. Because idiopathic DCM occurs as a familial disorder, researchers have long...
Wong1,2, Pui Shi Chan1,2, Lek Wen Tan3, Roger Foo2,3,4 & Jianming Jiang 1,2,4* Truncating variants in TTN (TTNtv), coding for the largest structural protein in the sarcomere, contribute to the largest portion of familial and ambulatory dilated cardiomyopathy (DCM...
myopathyTTNvariant interpretationPathogenic variants in encoding the largest human protein, are known to cause dilated cardiomyopathy and several forms of skeletal myopathy. The clinical interpretation of variants is challenging, however, due to the frequency of missense changes, variable testing and ...
4. Based on morpho-functional phenotypes5, cardiomyopathies are classified into hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM), and arrhythmogenic right ventricular (ARVC) which each one has their specific features6. The hallmark features of cardiomyo...
Dilated cardiomyopathy 4.08E−06 4.08E−06 0.00305 Adrenergic signaling in cardiomyopathy 0.00176 Table 3 Pathways associated with the interacting proteins (identified through STRING database) GO:BP PANTHER:BP Reactome Pathway FDR Pathway FDR Pathway FDR KEGG Pathway FDR Acti...
Type of Genetic Modification Spontaneous mutation Evidence of the reprogramming transgene loss (including genomic copy if applicable) RT-PCR Associated disease Dilated cardiomyopathy Gene/locus Gene: TTNLocus: 2p31.2Mutation: heterozygote c.79684C>T (p.Arg26562Ter) Data archived/stock date 07/2021 Ce...
Cardiomyopathy also was observed in our patients [17]. Recently, Younus et al (2019) reported a nonsense mutation in the SGCD gene among Pakistani population having LGMD features that shows variability with features in comparison the cases re- ported here [18]. Through WES, we detected a ...
arrhythmic deathautopsydilated cardiomyopathygeneticssudden cardiac deathTTNdoi:10.1016/j.jacep.2024.09.040Matthew YeeSchool of Medicine, University of California-San Francisco, San Francisco, California, USAJames W. SalazarSection of Cardiac Electrophysiology, Division of Cardiology, Department of Medicine,...
Abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes. Nat. Sci. Rep. 2017, 7, 1-11. [CrossRef] [PubMed]Vikhorev, P.G.; Smoktunowicz, N.; Munster, A.B.; Copeland, O.; Kostin, S.; Montgiraud...