The TPM1 gene encoding α-tropomyosin is located on chromosome 15q2 and is composed of 15 exons with a corresponding mature mRNA of 1kb. From:Post-Genomic Cardiology (Second Edition),2014 Discover other topics Chapters and Articles You might find these chapters and articles relevant to this topi...
Novel Mutation Lys30Glu in the TPM1 Gene Leads to Pediatric Left Ventricular Non-Compaction and Dilated Cardiomyopathy via Impairment of Structural and Functional Properties of Cardiac Tropomyosindoi:10.3390/ijms252313059Pediatric dilated cardiomyopathy (DCM) is a rare heart muscle disorder leading to the...
To identify the causative mutation whole exome sequencing is ongoing. In conclusion, we attempt to characterize the clinical and morphological particularities of five cases presenting CAP disease, not-related to known genes. 展开 会议名称: 19th International Congress of the World-Muscle-Society ...
However, some high-risk mutations causing sudden cardiac death are also known in this gene. We present a case of a novel heterozygous TPM1 mutation, NM_001018005.2:c.203A[G, p.Gln68Arg; co-segregating in an Indian family with hypertrophic cardiomyopathy. Our report expands the mutational ...
Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden deathSarcomere protein geneTPM1Left ventricular noncompactionCardiomyopathySudden deathLeft ventricular noncompaction (LVNC) is a cardiomyopathy morphologically characterized by 2-layered myocardium, numerous ...
This downregulation could in some cases be mediated by deletion of the TPM1 gene. On the other hand, the correlation of DCN underexpression with the presence of KRAS mutations suggests that DCN expression is affected by the presence of activating KRAS mutations, lowering the amount of the ...
DCM can result from mutations in the gene encoding cardiac α-tropomyosin (TM). In order to understand how the dilated cardiomyopathy-causing Glu40Lys mutation in TM affects actomyosin interactions, thin filaments have been reconstituted in muscle ghost fibers by incorporation of labeled Cys707 of ...
Some 26% of patients had a mutation in one of the five sarcomeric genes investigated. More than half of the mutations had not been described before. The MYBPC3 gene was the most frequently mutated, followed by MYH7. No phenotypic differences were observed between carriers of the various ...
It was suggested that the mutation might alter interaction of the Z-disc components and caused cardiomyopathy. A single nucleotide polymorphism p.Ala151= found in TCAP had significant differences in gene frequency between DCM and control cases. It is necessary to analyze the other sarcomeric genes ...
3.1. Pathogenicity of the K30E Mutation in the TPM1 Gene The primary objective of this research was to assess the pathogenicity of the novel de novo K30E mutation in the TPM1 gene, identified in a proband with progressive HF. Clinical data indicated severe non-compaction and dilated cardio...