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Location-Dependent Differences in Cardiac and Skeletal Muscle Dysfunction

ABSTRACT: Analysis of protein composition of zebrafish ttn.2 truncation variants ( e129-end of I-band ttn.2 and e232-end of A-band ttn.2 compared with wild type).

INSTRUMENT(S):

ORGANISM(S): Zebrafish Metagenome

SUBMITTER: xiaoping yang

LAB HEAD: Prof. Mathias Gautel

PROVIDER: PXD071430 | Pride | 2026-02-09

REPOSITORIES: Pride

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	002dad9d-c2c4-433f-a90a-902f0ae54892.2025-08-06.log	Other
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Publications

Location-Dependent Differences in Cardiac and Skeletal Muscle Dysfunction Associated With Truncating Titin (<i>ttn.2</i>) Variants.

Santiago Celine F CF Huttner Inken G IG O'Brien Ailbhe K AK Amerudin Melissa A B MAB Bennett Pauline M PM Cvetkovska Jasmina J Chand Renee R Holt Mark M Trivedi Gunjan G Wang Louis W LW Yang Xiaoping X Smith Kelly A KA Gautel Mathias M Fatkin Diane D Hinits Yaniv Y

Circulation research 20260107 3

<h4>Background</h4>Truncating variants in the <i>TTN</i> gene (<i>TTN</i>tv), encoding the giant sarcomeric protein titin, cause a range of human cardiac and skeletal muscle disorders of varying penetrance and severity. The effects of variant location on clinical manifestations are incompletely understood.<h4>Methods</h4>We generated 6 zebrafish lines carrying truncating <i>ttn.2</i> variants in the Z-disk, I-band, A-band, and M-band titin regions. Expression of titin transcripts and protein lev ...[more]

PMID: 41498146

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Enhancing Cardiac Cell Proliferation and Survival Suppresses Dilated Cardiomyopathy caused by Ttn-insufficiency

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Project description:BACKGROUND & AIMS: Emerging long non-coding RNAs (lncRNAs) have been demonstrated to be associated with progression of various cancers. In the current study, we identified a novel lncRNA-TTN-AS1 and dissected the underlying mechanisms by which lncRNA-TTN-AS1 induced carcinogenesis of esophageal squamous cell carcinoma (ESCC). METHODS: ESCC and adjacent non-malignant specimens from 7 ESCC patients were chosen to analyze the expression profiles of lncRNA-miRNA-mRNA using multiple microarrays. The novel lncRNA-TTN-AS1 was identified using multiple bioinformatics platforms. Levels of lncRNA-TTN-AS1 in tissues from 148 ESCC patients were verified by qRT-PCR and in situ hybridization. The biological function and mechanism of action of lncRNA-TTN-AS1 were performed both in vivo and in vitro using gain-of and loss-of function assays on TE-13 cells and KYSE-410 cells, luciferase reporter assays, RNA immunoprecipitation (RIP) assays and RNA pull-down assays. RESULTS: lncRNA-TTN-AS1 levels were upregulated in ESCC tissues compared with adjacent non-malignant tissues, and correlated with poor prognosis. LncRNA-TTN-AS1, as an oncogene, promoted ESCC cell proliferation and prevented apoptosis. Additionally, lncRNA-TTN-AS1 increased snail1 levels by competitively binding to miR-133b, thereby facilitating epithelial-mesenchymal transition (EMT) cascades. Sharing miR-133b binding sites, lncRNA-TTN-AS1 as a ceRNA also derepressed FSCN1 mediated by miR-133b. Notably, lncRNA-TTN-AS1 stabilized FSCN1 mRNA by interacting directly with the mRNA stabilizing protein HuR, resulting in ESCC invasion-cascades and activation of FSCN1/β-catenin. CONCLUSION: lncRNA-TTN-AS1 sponges miR-133b to govern the expression of snial1 and FSCN1, which promotes ESCC cell proliferation and metastasis. It also combines with HuR to modulate FSCN1 in ESCC cell lines. Our findings may provide a novel target for ESCC anti-metastatic therapies.

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