Related Experiment Video

Updated: Aug 22, 2026

Determination of the Relative Cell Surface and Total Expression of Recombinant Ion Channels Using Flow Cytometry
11:32

Determination of the Relative Cell Surface and Total Expression of Recombinant Ion Channels Using Flow Cytometry

Published on: September 28, 2016

L-type Ca2+ channels in Ca2+ channelopathies

Jörg Striessnig1, Jean-Charles Hoda, Alexandra Koschak

  • 1Department of Pharmacology and Toxicology, Institute of Pharmacy, University of Innsbruck, Peter-Mayr-Strasse 1, A-6020 Innsbruck, Austria. joerg.striessnig@uibk.ac.at

Biochemical and Biophysical Research Communications
|September 1, 2004
PubMed

Insights

Voltage-gated L-type Ca2+ channels (LTCCs) are crucial for cell function. This review explores how LTCC gene defects cause human diseases, including neurological disorders, highlighting their role in channelopathies.

Area of Science:

  • Molecular biology
  • Human physiology
  • Neuroscience

Background:

  • Voltage-gated L-type Ca2+ channels (LTCCs) facilitate calcium ion (Ca2+) influx into excitable cells.
  • LTCCs are vital for muscle contraction, neuronal signaling, and endocrine/sensory cell function.

Purpose of the Study:

  • To review the role of LTCCs in human diseases stemming from genetic Ca2+ channel defects (channelopathies).
  • To examine how LTCC dysfunction contributes to various channelopathies and associated symptoms.

Main Methods:

  • Literature review of studies on LTCCs and human genetic diseases.
  • Analysis of genetic mutations affecting LTCC alpha1 subunits.
  • Examination of mouse models with Ca2+ channelopathies.

Main Results:

  • LTCC dysfunction due to structural defects in alpha1 subunits is linked to conditions like congenital stationary night blindness, malignant hyperthermia, and hypokalemic periodic paralysis.
  • LTCCs are implicated in neurological symptoms of channelopathies affecting other Ca2+ channels, as seen in tottering mice (Ca(v)2.1 alpha1 dysfunction).

Conclusions:

  • Genetic defects in LTCCs are a direct cause of specific human channelopathies.
  • LTCCs play a significant, though sometimes indirect, role in the pathophysiology of neurological channelopathies.
  • Studying Ca2+ channelopathies offers insights into the diverse functions of LTCC isoforms in human health and disease.

More Related Videos

Patch Clamp and Perfusion Techniques for Studying Ion Channels Expressed in Xenopus oocytes10:19

Patch Clamp and Perfusion Techniques for Studying Ion Channels Expressed in Xenopus oocytes

Published on: January 10, 2011

Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia09:36

Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia

Published on: December 22, 2023

Related Concept Videos

The Role of Ion Channels in Neuronal Computation01:19

The Role of Ion Channels in Neuronal Computation

A postsynaptic neuron usually receives numerous impulses from several other presynaptic neurons. The axon hillock of the postsynaptic neuron integrates all these signals and determines the likelihood of firing an action potential.
Sometimes a single EPSP is strong enough to induce an action potential in the postsynaptic neuron. However, multiple presynaptic inputs must often create EPSPs around the same time for the postsynaptic neuron to be sufficiently depolarized to fire an action potential.
Calmodulin-dependent Signaling01:16

Calmodulin-dependent Signaling

Calmodulin (CaM) is a calcium-binding protein in eukaryotes that controls various calcium-regulated cellular processes. It has four calcium-binding sites that bind calcium to form the calcium-calmodulin ( Ca2+-CaM) complex. GPCR stimulation increases the calcium levels in the cells that bind to CaM and induces a conformational change.
The Ca2+-CaM complex does not have enzymatic activity by itself. Instead, the complex binds downstream target proteins, including membrane proteins or enzymes,...
Voltage-gated Ion Channels01:26

Voltage-gated Ion Channels

Voltage-gated ion channels are transmembrane proteins that open and close in response to changes in the membrane potential. They are present on the membranes of all electrically excitable cells such as neurons, heart, and muscle cells.
Generally, all voltage-gated ion channels have a 'voltage-sensing domain' that spans the lipid bilayer. The charged residues in the sensor move in response to the membrane potential changes that open the channel allowing ions movement. There are several types of...
Ligand-Gated Ion Channel Receptor: Gating Mechanism01:30

Ligand-Gated Ion Channel Receptor: Gating Mechanism

Ligand-gated ion channels are transmembrane proteins that play a vital role in intercellular communication and functions of the nervous system. They allow the influx of ions across the membrane once the neurotransmitter binds, allowing the subsequent transmission of electrical excitation across the neurons. Other ligand-gated ion channels, like the γ-aminobutyric acid (GABA) receptor, permit anions like chloride into the cells on the binding of the GABA molecule. Their entry into the cell...
ATP Driven Pumps II: P-type Pumps01:34

ATP Driven Pumps II: P-type Pumps

The P-type pumps are a large family of integral membrane transporter ATPases. They are divided into five major types based on substrate specificity, from I to V.
A typical P-type pump has three cytosolic domains: nucleotide-binding (N), phosphorylation (P), and activator (A) domains. These domains are connected to the membrane-spanning helices by short amino acid segments. ATP hydrolysis and covalent phosphoenzyme intermediate formation are crucial parts of the catalytic cycle. At the highly...
Ligand-gated Ion Channels01:19

Ligand-gated Ion Channels

Ligand-gated ion channels are transmembrane proteins with a channel for ions to pass through and a binding site for a ligand. The channel opens only when a ligand attaches to the binding site.
Three Subfamilies of Ligand-gated Ion Channels
Ligand-gated ion channels fall into three subfamilies. The 'Cys-loop' includes the nicotinic acetylcholine receptors, γ-aminobutyric acid (GABA), glycine, and 5-hydroxytryptamine receptors. The second one is the 'Pore-loop' channels that include the...