ACTC1
- Known as:
- ACTC1
- Catalog number:
- 001075A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ACTC1
Related genes to: ACTC1
- Gene:
- ACTC1 NIH gene
- Name:
- actin alpha cardiac muscle 1
- Previous symbol:
- ACTC
- Synonyms:
- CMD1R
- Chromosome:
- 15q14
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: ACTC1
Related articles to: ACTC1
- Dilated cardiomyopathy (DCM) is a leading cause of heart failure with notable sex differences in susceptibility and progression. Although sarcomere mutations such as cardiac actin ACTC1 p.T126I contribute to familial DCM, the in vivo effects and sex-specific consequences remain unclear. We generated a zebrafish model carrying the orthologous Acta1b p.T126I mutation and conducted longitudinal, sex-stratified analyses of cardiac function, morphology and gene expression. Mutants showed variable onset of cardiac dysfunction, with progressive DCM, pericardial effusion, ventricular dilation, and reduced survival in adults. Female mutants exhibited earlier and sustained diastolic dysfunction, greater cardiac remodeling and significantly lower survival compared to males, revealing pronounced sexual dimorphism. Molecular profiling at a pre-symptomatic stage identified upregulation of nppb, downregulation of hypertrophic transcription factors (gata4, mef2ca), and sex-specific alterations in calcium handling genes (serca2, pln1, slc8a1a) and proteostasis regulators (hsf1, bag3). Older stages demonstrated a variable shift of individuals' gene expression to cardiac remodeling and decompensation. These findings demonstrate that the Acta1b p.T126I mutation drives progressive, sex-specific DCM in zebrafish, highlighting biological sex as a critical modifier of sarcomeric cardiomyopathy progression and targeted therapy development. - Source: PubMed
Publication date: 2026/08/07
Prill KendalDawson John F - The WZS minipig, native to the Hainan province of China, is characterized by excellent meat palatability. In addition, this breed represents a promising animal model for human disease research, especially for cardiac diseases. Whole-genome resequencing is a powerful approach for guiding breeding decisions. By identifying mutations and conserved regions linked to environmental adaptability and physiological fitness, this method supports both the genetic improvement in pig breeds and their application as animal models for human disease research. However, the genomic locations of high and low nucleotide diversity regions harboring cardiac-related genes in the WZS genome remain unclear. In this study, cardiac-related genes were selected based on whole-genome resequencing data previously released by our research team, including 147 samples from five breeds (PRJCA054653), and detected RNA expression patterns of heart tissues across five growing periods. Between-breed analysis indicated that WZS pigs exhibited the highest nucleotide diversity among the five breeds and underwent a recently diverged lineage. A non-redundant 236-gene set was identified from the union of three gene subsets, of which the functional genes enriched in KEGG (67) and GO terms (192) were primarily implicated in cardiac muscle structure and energy metabolism, supplemented by additional genes selected based on high expression levels (52) and DEGs (44). Specifically, the DEGs of , , , , and were highly expressed in the heart and enriched in the cardiac contraction pathway. The findings provide candidate genes for breeding and support the future use of WZS pigs as an improved animal model for human cardiac research. - Source: PubMed
Publication date: 2026/07/22
Ren YuweiWang FengZheng XinliZhang YanLin RuiyiLu XuyangZhang PengpengLi CencenChen LinlinChao Zhe - : Impaired fatty acid oxidation (FAO) is considered an important metabolic mechanism underlying skeletal muscle aging and sarcopenia; however, the key regulatory molecules involved in this process remain incompletely defined. This study aimed to identify candidate biomarkers associated with impaired FAO in aged skeletal muscle, characterize their potential biological functions and regulatory features through integrated bioinformatics and machine learning analyses, and preliminarily validate their expression patterns in in vivo and in vitro aging models. : Skeletal muscle aging transcriptomic datasets GSE1428 and GSE674 were obtained from the Gene Expression Omnibus database. FAO-related genes were retrieved from GeneCards. Differentially expressed FAO-related genes (DE-FAOGs) were identified through differential expression analysis and were further analyzed by Gene Ontology and Kyoto Encyclopedia of Genes and Genomes enrichment analyses. Random forest, Boruta, and protein-protein interaction (PPI) network analyses were used to screen hub genes, and an artificial neural network (ANN) model was constructed. Single-cell RNA sequencing analysis, gene set enrichment analysis, ceRNA network construction, drug prediction, molecular docking, and molecular dynamics simulation were further performed. Hub gene expression was validated by qRT-PCR in naturally aged mice and D-galactose-induced senescent C2C12 cells. : A total of 69 DE-FAOGs were identified and were mainly enriched in mitochondrial function, electron transport chain, and energy metabolism-related pathways. Three hub genes, creatine kinase, mitochondrial 2 (), actin alpha cardiac muscle 1 (), and forkhead box O3 (), were identified by random forest, Boruta, and PPI analyses. Receiver operating characteristic (ROC) analysis showed good discriminatory performance for these genes. The three-gene ANN model achieved area under the curve (AUC) values of 0.992 and 0.964 in the training and validation datasets, respectively. Gene set enrichment analysis (GSEA) suggested that the hub genes were closely associated with mitochondrial energy metabolism, lipid metabolism, and stress regulation. qRT-PCR confirmed decreased Ckmt2 expression and increased Actc1 and Foxo3 expression under aging conditions, consistent with the bioinformatics results. : , , and are potential biomarkers associated with impaired FAO in aged skeletal muscle. The ANN model based on these three genes showed good predictive performance and may provide new insights into the metabolic mechanisms and therapeutic targets of sarcopenia. - Source: PubMed
Publication date: 2026/07/14
Gao HaoyangYang FangjieWu JiabinJi MinghaoMa XiaotongZhu DanlinZhao LinlinXiao Weihua - Arthrogryposis multiplex congenita (AMC) is a group of conditions with congenital joint contractures in at least two body regions. ACTC1 variants cause heart disorders but have also been reported in six families with AMC. We report on two individuals with AMC who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr). Individual 1 had scoliosis and no reported cardiac phenotype. Individual 2 had Shone's complex with coarctation of the aorta, which has not been reported in ACTC1-related AMC before. In vitro testing demonstrated that p.Glu109Lys caused impaired actin filament assembly and reduced ACTC1 protein levels, effects not apparent for p.Lys217Thr. Our findings characterize two novel variants that cause ACTC1-related AMC and expand the list of phenotypes observed in this disorder. - Source: PubMed
Publication date: 2026/07/15
Kerr LaurenMoffatt PierreHyer LaurenNossov SarahDahan-Oliel NoémiRauch Frank - Sodium-glucose cotransporter 2 (SGLT2) inhibitors have beneficial outcomes on the renal and cardiovascular system in diabetes mellitus (DM) patients. As most clinical trials were performed in Type 2 DM, the effects of SGLT2 inhibition in Type 1 DM are not completely clarified. - Source: PubMed
Publication date: 2026/06/27
Rodrigues Eder AndersonDionizio AlineRosa Camila MorenoCampos Dijon Henrique SaloméDamatto Felipe CesarReyes David Raphael AbreuSouza Lidiane MoreiraSantos Priscila PortugalGatto MarianaBorim Patricia AparecidaPagan Luana UrbanoAraújo Tamara TeodoroBuzalaf Marilia Afonso RabeloCunha Thulio MarquesOkoshi KatashiOkoshi Marina Politi