Ask about this productRelated genes to: TNNI3 antibody
- Gene:
- TNNI3 NIH gene
- Name:
- troponin I3, cardiac type
- Previous symbol:
- CMD2A
- Synonyms:
- TNNC1, CMH7
- Chromosome:
- 19q13.42
- Locus Type:
- gene with protein product
- Date approved:
- 1989-12-11
- Date modifiied:
- 2019-04-23
Related products to: TNNI3 antibody
Related articles to: TNNI3 antibody
- Hospitalization in older adults often leads to disability in daily living activities, thereby increasing the risk of functional and cognitive impairments. This randomized controlled trial analyzed the serum protein profile of patients admitted to an acute geriatric unit who engaged in supervised multicomponent functional exercises compared with a control group. Potential protein biomarkers were assessed using Olink® serum proteomics platform employing two predefined panels: Cardiometabolic and Inflammation. Notably, short-term exercise intervention was associated with moderate but consistent changes in the serum proteome. Nominal differences (p < 0.05, unadjusted) were observed for amyloid beta precursor-like protein 1 (APLP1), complement C1q tumor necrosis factor-related protein 1 (C1QTNF1), interleukin-8 (CXCL8), interleukin-7 (IL-7), M-phase phosphoprotein 8 (MPHOSPH8), neurotrophin 3 (NTF3), tissue-type plasminogen activator (PLAT), SFRS1-interacting protein (PSIP1), pleiotrophin (PTN), cardiac-type troponin I (TNNI3), von Willebrand factor (vWF), and while levels of CD40 ligand (CD40LG) were reduced. These findings suggest that short-term multicomponent functional exercises during acute hospitalization can induce changes in the serum proteome. These molecular alterations provide exploratory insight into the biological processes associated with the functional benefits observed following the intervention in hospitalized older adult patients. - Source: PubMed
Publication date: 2026/04/30
Izco-Cubero MaiteLachén-Montes MercedesChenhuichen ChenhuiVeloz Ba CedeñoEcheverría-Beistegui IcíarZambom-Ferraresi FabricioZambom-Ferraresi Fabiolade la Riva María Luisa Fernández-GonzálezÁlvarez-Rodríguez PatriciaSantamaría EnriqueMartínez-Velilla Nicolás - Dilated cardiomyopathy (DCM) results from systolic dysfunction, while restrictive cardiomyopathy (RCM) is due to diastolic dysfunction. The diverse pathophysiology of primary DCM and RCM suggests distinct underlying genetic mechanisms. A well-established disease gene for DCM and RCM is cardiac troponin I3 (TNNI3), which causes dominant and recessively inherited forms. In children, bi-allelic truncating TNNI3 variants have typically been associated with DCM, and heterozygous missense TNNI3 variants are associated with RCM. We report a 2-year-old female with severe RCM that is genetically caused by a homozygous TNNI3 nonsense variant, c.406C>T (p.Arg136∗), which results in a more distal (C-terminal) truncation than most previously reported disease-associated nonsense variants. In myocardial biopsies of the patient, TNNI3 protein abundance was diminished, suggesting that residual TNNI3 function may underlie RCM, while TNNI3 absence causes DCM. The RCM in this patient was treatment refractory and resulted in a heart transplant at the age of 28 months. Overall, recessive TNNI3 protein truncation causes severe pediatric RCM, suggesting that the allelic status, type of genetic alteration, and length of TNNI3 protein truncation determine cardiomyopathy onset and subtype manifestation. - Source: PubMed
Publication date: 2026/03/30
Kühnisch JirkoBarnett Cara LBrendel JosephineBerklite LaraVilla ChetSeifert WenkeKlaassen SabineKlingel KarinWeaver K Nicole - Pediatric restrictive cardiomyopathy (RCM) is a rare, life-threatening heart disorder characterized by myocardial stiffness and impaired ventricular relaxation. It is often linked to pathogenic TNNI3 variants, which affect cardiac troponin I, a key regulator of myocardial contraction and relaxation. We generated induced pluripotent stem cell (iPSC) lines from two affected children, carrying the c.574C > T(p.Arg192Cys) and c.509G > A (p.Arg170Gln) variants, and from two unaffected family members. All iPSC lines exhibited typical morphology, expressed markers of undifferentiated state, and demonstrated multipotent differentiation potential. These patient-specific lines provide a physiologically relevant platform to investigate disease mechanisms and develop targeted therapies for TNNI3-associated RCM. - Source: PubMed
Publication date: 2026/03/04
Starčević PauloBuono Michele FPol FemkeBartelds BeatrijsSchipper Henk SSluijter Joost P GDoevendans PieterStillitano Francesca - Restrictive cardiomyopathy (RCM) is a severe cardiac disorder characterized by impaired ventricular filling and diastolic dysfunction, with mutations in sarcomeric proteins representing major causative factors. Mutations of TNNI3 gene (e.g., p.R192H) constitute major genetic causes of RCM, particularly affecting pediatric patients and being associated with poor prognosis. Here, we demonstrate that adenine base editor (ABE) can effectively correct RCM-causing mutation and alleviate RCM in a murine model. We develop a murine model harboring the Tnni3 mutation that recapitulates the hallmark features of human RCM. Importantly, targeted delivery of ABE via adeno-associated virus (AAV) can achieve efficient and precise correction of the Tnni3 mutation in adult RCM mice, leading to significant improvement of cardiac functions. Our findings establish base editing as a therapeutic strategy for RCM and highlight its broader potential for treating genetic cardiomyopathies in clinical settings. - Source: PubMed
Publication date: 2026/02/27
Chang ChongZhang XiulinFan XiaoqiChang YuanFeng YihangLi GengJia HaoWen ShuangZhang NingningHua XiumengCui HaoChen XiaoSong JiangpingChang Xing - Cardiomyopathies (DCM, HCM, and ACM) and primary arrhythmogenic disorders (BrS, LQTS, and CPVT) represent the most common causes of sudden cardiac death (SCD) in young individuals. Systematic genome-wide single-nucleotide polymorphism (SNP) analyses and genome-wide association studies (GWASs) have enabled the identification of numerous genetic variants associated with cardiovascular diseases. Body: Genetic testing for cardiomyopathies and inherited channelopathies primarily involves panel testing of genes with definitive and strong evidence of disease association; genes supported by moderate evidence may also be considered. Cardiomyocytes express a variety of proteins implicated in the pathogenesis of genetic cardiomyopathies, including sarcomeric, cytoskeletal, desmosomal, and nuclear envelope proteins. Inherited cardiac channelopathies result from mutations in genes encoding cellular components that influence calcium ion availability or affect membrane ion channels, including sodium, potassium, and calcium channels. Common variants associated with SCD are found in genes encoding cardiac ion channels (e.g., , , and ), calmodulin (), sarcomeric proteins (, , , and ), and desmosomal proteins ( and ). - Source: PubMed
Publication date: 2025/12/27
Lovrić Benčić MartinaLevicki Rea