A5078586583- Cardiac electrophysiology and arrhythmias
- Ion channel regulation and function
- RNA and protein synthesis mechanisms
- Cardiac pacing and defibrillation studies
- Pancreatic function and diabetes
- Diabetes Treatment and Management
- Cardiac Arrhythmias and Treatments
- Electrochemical Analysis and Applications
- Image Processing and 3D Reconstruction
- Hydrogen embrittlement and corrosion behaviors in metals
- Forensic and Genetic Research
- Neuroscience and Neural Engineering
- RNA Research and Splicing
- Congenital heart defects research
- Cardiac Arrest and Resuscitation
- Receptor Mechanisms and Signaling
- Corrosion Behavior and Inhibition
- RNA regulation and disease
- Cardiac Ischemia and Reperfusion
Centro de Investigación en Red en Enfermedades Cardiovasculares
2020-2025
Universidad Complutense de Madrid
2020-2025
Instituto de Salud Carlos III
2022-2025
Centro de Investigación Biomédica en Red
2022-2024
Hospital General Universitario Gregorio Marañón
2020-2024
In a family with inappropriate sinus tachycardia (IST), we identified mutation (p.V240M) of the hyperpolarization-activated cyclic nucleotide–gated type 4 (HCN4) channel, which contributes to pacemaker current (I f ) in human sinoatrial node cells. Here, clinically study fifteen members and functionally analyze p.V240M variant. Macroscopic HCN4 single-channel currents were recorded using patch-clamp cells expressing native (WT) and/or channels. All carriers exhibited IST that was accompanied...
Abstract Aims The transcription factor Tbx5 controls cardiogenesis and drives Scn5a expression in mice. We have identified two variants TBX5 encoding p. D111Y F206L Tbx5, respectively, unrelated patients with structurally normal hearts diagnosed long QT (LQTS) Brugada (BrS) syndrome. Here, we characterized the consequences of each variant to unravel underlying disease mechanisms. Methods results combined clinical analysis vivo vitro electrophysiological molecular techniques human-induced...
Dapagliflozin (dapa) and empagliflozin (empa) are sodium-glucose cotransporter-2 inhibitors (SGLT2is) that reduce morbidity mortality in heart failure (HF) patients. Sodium inward rectifier K+ currents (INa IK1), carried by Nav1.5 Kir2.1 channels, respectively, responsible for cardiac excitability, conduction velocity, refractoriness. In HF patients, expression reduced, enhancing risk of arrhythmia. Incubation with dapa or empa (24-h,1 µM) significantly increased INa IK1 densities recorded...
A novel rare mutation in the pore region of Nav1.5 channels (p.L889V) has been found three unrelated Spanish families that produces quite diverse phenotypic manifestations (Brugada syndrome, conduction disease, dilated cardiomyopathy, sinus node dysfunction, etc.) with variable penetrance among families. We clinically characterized carriers and recorded Na+ current (INa) generated by p.L889V native (WT) channels, alone or combination, to obtain further insight into genotypic–phenotypic...
The ZFHX3 and SCN5A genes encode the zinc finger homeobox 3 (Zfhx3) transcription factor (TF) human cardiac Na+ channel (Nav1.5), respectively. effects of Zfhx3 on expression Nav1.5 channel, in excitability, are currently unknown. Additionally, we identified three variants probands diagnosed with familial atrial fibrillation (p.M1260T) Brugada Syndrome (p.V949I p.Q2564R). Here, analyzed native (WT) mutated current (INa) recorded HL-1 cardiomyocytes. mRNA can be detected ventricular samples....
Abstract Synapse-Associated Protein 97 (SAP97) is an anchoring protein that in cardiomyocytes targets to the membrane and regulates Na + K channels. Here we compared electrophysiological effects of native (WT) p.P888L SAP97, a common polymorphism. Currents were recorded from mice trans-expressing human WT or SAP97 Chinese hamster ovary (CHO)-transfected cells. The duration action potentials QT interval significantly shorter p.P888L-SAP97 than WT-SAP97 mice. Compared WT, increased charge...
ATP-sensitive potassium (KATP) channels composed of Kir6.x and sulfonylurea receptor (SURs) subunits couple cellular metabolism to electrical activity. Cantú syndrome (CS) is a rare disease caused by mutations in the genes encoding Kir6.1 (KCNJ8) SUR2A (ABCC9) that produce KATP channel hyperactivity due reduced block physiological ATP concentrations. We functionally characterized p.S1054Y mutation identified two CS carriers, who exhibited mild phenotype although was predicted as highly...
Structures from the Stone Age can provide unique insights into Late Glacial and Mesolithic cultures around Baltic Sea. Such structures, however, usually did not survive within densely populated Central European subcontinent. Here, we ...The Sea basins, some of which only submerged in mid-Holocene, preserve structures that on land. Yet, discovery these features is challenging requires cross-disciplinary approaches between archeology ...
ABSTRACT Background In a family with inappropriate sinus tachycardia (IST) we identified novel mutation (p.V240M) of the hyperpolarization-activated cyclic nucleotide-gated type 4 (HCN4) channel, which contributes to pacemaker current (I f ) in human sinoatrial node cells. Here clinically study and functionally analyze p.V240M variant. Methods Macroscopic HCN4 single-channel currents were recorded using patch-clamp cells expressing native (WT) and/or channels. Results All carriers exhibited...
Abstract Background Empagliflozin (EMPA) and dapagliflozin (DAPA) are sodium-glucose cotransporter 2 inhibitors (SGLT2i) used for the treatment of type Diabetes Mellitus (T2DM). Both drugs reduce morbidity mortality in heart failure (HF) patients with reduced or preserved ejection fraction, even absence T2DM. Moreover, these decrease ventricular arrhythmias sudden cardiac death HF patients. The sodium current (INa), carried by Nav1.5 channels, is responsible action potential (AP)...
Abstract Background Zfhx3 (zinc finger homeobox 3) is a transcription factor (TF) encoded by the ZFHX3 gene. GWAS and gene-based association studies showed that one of major atrial fibrillation (AF) susceptibility-conferring genes. The sodium current (INa), carried Nav1.5 channels SCN5A, responsible for ventricular action potential depolarization determines cardiac excitability. interacts with other TFs, such as Tbx5 Pitx2c increase decrease INa, respectively. However, effects on INa are...