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
- Left ventricular non-compaction (LVNC) is a genetically heterogeneous cardiomyopathy linked to sarcomeric and cytoskeletal genes, yet only one case has previously been associated with a troponin I ( variant. Our case report describes the exceptionally rare coexistence of LVNC, a novel TNNI3 variant, and a hypermobile Ehlers-Danlos syndrome (hEDS) phenotype, genetically unrelated to resulting in a distinct clinical presentation. - Source: PubMed
Publication date: 2026/07/14
Danso Kwadwo AAlboliras Ernerio TYeleti Dylan ASecondus Sandra WBogarapu Soujanya - Seizure-like episodes may occasionally arise from cardiovascular causes rather than primary neurological disease, leading to diagnostic delay. We report an adolescent girl who presented with recurrent generalised tonic episodes with cyanosis and transient loss of consciousness. Initial evaluation for epilepsy, including video electroencephalography during an event, was unremarkable. Cardiac assessment revealed marked biatrial dilatation with restrictive ventricular physiology on echocardiography, consistent with restrictive cardiomyopathy (RCM). Ambulatory monitoring documented atrial tachycardia (AT) immediately preceding the episodes, strongly suggesting arrhythmia-related cerebral hypoperfusion as the underlying mechanism of convulsive syncope. The patient subsequently experienced cardiac arrest but was successfully resuscitated and stabilised with rhythm control therapy. Genetic testing identified a heterozygous variant consistent with familial RCM. This case highlights the importance of considering cardiac causes in apparent seizures, illustrates the haemodynamic vulnerability of RCM to AT and underscores the value of early cardiac evaluation in children with unexplained seizure-like events. - Source: PubMed
Publication date: 2026/07/21
Ng Benjamin Wei-LiangWong Martin Ngie-Liong - Sudden unexplained nocturnal death syndrome (SUNDS), a subtype of sudden unexplained death, predominantly affects young, otherwise healthy individuals, with a higher prevalence in male subjects and a geographic concentration in Southeast Asia, particularly Thailand. Despite extensive investigation, the genetic basis of SUNDS remains incompletely understood. Sarcomeric and non-sarcomeric gene variants were investigated in 98 SUNDS cases using whole-exome sequencing. Postmortem cardiac examination and molecular modeling were performed to assess myocardial abnormalities and the structural impact of selected sarcomeric variants. Eleven missense variants in five sarcomeric genes (MYBPC3, MYH7, TNNI3, TNNT2, and TPM1) were identified in 12 cases (12.2%), whereas 37 variants across 18 non-sarcomeric genes were detected in 29 cases (29.6%). The MYH7 variant c.1562T>C (p.Ile521Thr) was identified as likely pathogenic. Cardiac histopathology revealed heterogeneous myocardial remodeling, including myocyte hypertrophy and interstitial fibrosis; some MYH7 variant carriers displayed increased left ventricular wall thickness (>1.5 cm). Molecular modeling of the TPM1 variant c.641A>G (p.Tyr214Cys), located in the hinge region of the tropomyosin-troponin regulatory complex, suggested disruption of a native π-π stacking interaction, potentially affecting thin filament stability. Sarcomeric variants were associated with heterogeneous myocardial remodeling in SUNDS. These findings highlight the genetic and pathologic heterogeneity of SUNDS and suggest that sarcomeric gene variants represent a previously underrecognized contributor to myocardial remodeling and arrhythmogenic risk. - Source: PubMed
Publication date: 2026/07/21
Chaloemthanetphong AummarinNutho BodeePitiwararom RachtipanVarrathyarom PagparpatLertparinyaphorn IrinNoh HasneeSathirapatya TikumphornSukawutthiya PoonyapatPananpatcha NapapatchVongpaisarnsin Kornkiat - Although the hearts of large animals are known to exhibit regional heterogeneity in structure, function, and metabolism, their spatial patterns of gene expression remain poorly understood. Therefore, we investigated regional differences in gene expression across six anatomical regions of the bovine heart, including the atria, ventricles, interventricular septum, and apex ( = 3). The expression levels of genes related to cardiac development, structure, and branched-chain amino acid (BCAA) metabolism were analyzed using quantitative real-time PCR, and multivariate patterns were evaluated using principal component analysis (PCA). Histological analysis suggested no apparent structural differences among the examined regions. expression showed no significant regional variation, suggesting conserved cardiomyocyte identity. Conversely, contractile genes (, , , and ) and the BCAA metabolism-related gene were significantly more highly expressed in the ventricular myocardium than in the atrial regions. PCA clearly distinguished between the atrial and ventricular myocardium and indicated coordinated variations in contractile and metabolic gene expression. These findings of region-specific molecular heterogeneity in the bovine heart, characterized by regional differences in gene expression across the myocardium rather than morphological differences, provide new insights into the spatial regulation of cardiac function and highlight the value of the bovine heart as a model for studying myocardial specialization. - Source: PubMed
Publication date: 2026/07/01
Takiguchi RinWatanabe KenichiDoai YutsukiHashimoto MisuzuWatanabe HiroyukiMuranishi Yuki - Hypertrophic cardiomyopathy is an inherited cardiovascular disease with heterogeneous presentation. However, the metabolic changes resulting from mutations and their relationship to the phenotype remain unclear. - Source: PubMed
Publication date: 2026/07/11
Wu HaoYu QiuyueLi HuiminYang ZhulinZhang HongjiangRen DabingDing XiaoxueZhang HongZhao YanSu WenhuaYi Lunzhao