Ion channel disease

Biophysicists measuring the electric current passing through cell membranes have found that, in general, cell membranes have a vastly greater electrical conductance than does a membrane bilayer composed only of phospholipids and sterols. This greater conductance is thought to be conferred by the… Evolution and selectivity Ions flow passively through channels toward equilibrium.

Ion channel disease

Basic features[ edit ] Selectivity filter allowing only potassium ions through the potassium channel PBD: There are two distinctive features of ion channels that differentiate them from other types of ion transporter proteins: Ions pass through channels down their electrochemical gradientwhich is a function of ion concentration and membrane potential, "downhill", without the input or help of metabolic energy e.


ATPco-transport mechanisms, or active transport mechanisms. Ion channels are located within the membrane of all excitable cells, [1] and of many intracellular organelles.

Ion channel disease

This characteristic is called selective permeability. The archetypal channel pore is just one or two atoms wide at its narrowest point and is selective for specific species of ion, such as sodium or potassium.

However, some channels may be permeable to the passage of more than one type of ion, typically sharing a common charge: Ions often move through the segments of the channel pore in single file nearly as quickly as the ions move through free solution.

In many ion channels, passage through the pore is governed by a "gate", which may be opened or closed in response to chemical or electrical signals, temperature, or mechanical force. Ion channels are integral membrane proteinstypically formed as assemblies of several individual proteins.

Such "multi- subunit " assemblies usually involve a circular arrangement of identical or homologous proteins closely packed around a water-filled pore through the plane of the membrane or lipid bilayer.

Biological role[ edit ] Because channels underlie the nerve impulse and because "transmitter-activated" channels mediate conduction across the synapseschannels are especially prominent components of the nervous system.


Indeed, numerous toxins that organisms have evolved for shutting down the nervous systems of predators and prey e. In addition, ion channels are key components in a wide variety of biological processes that involve rapid changes in cells, such as cardiacskeletaland smooth muscle contractionepithelial transport of nutrients and ions, T-cell activation and pancreatic beta-cell insulin release.

In the search for new drugs, ion channels are a frequent target. Further heterogeneity of ion channels arises when channels with different constitutive subunits give rise to a specific kind of current. Classification by gating[ edit ] Ion channels may be classified by gating, i.

Voltage-gated ion channels open or close depending on the voltage gradient across the plasma membrane, while ligand-gated ion channels open or close depending on binding of ligands to the channel.

Voltage-gated ion channel Voltage-gated ion channels open and close in response to membrane potential. This family contains at least 9 members and is largely responsible for action potential creation and propagation.

These channels play an important role in both linking muscle excitation with contraction as well as neuronal excitation with transmitter release. Cation channels of sperm: This small family of channels, normally referred to as Catsper channels, is related to the two-pore channels and distantly related to TRP channels.

Voltage-gated potassium channels KV: This family contains almost 40 members, which are further divided into 12 subfamilies. These channels are known mainly for their role in repolarizing the cell membrane following action potentials. Correspondingly, they assemble as tetramers to produce a functioning channel.

Some transient receptor potential channels: This group of channels, normally referred to simply as TRP channels, is named after their role in Drosophila phototransduction.

This family, containing at least 28 members, is incredibly diverse in its method of activation.Mutations in ion channel genes may cause either a loss or a gain of channel function.

Loss-of-function mutations in ion channels often lead to recessive disease, as is the case with CFTR mutations in cystic fibrosis (1) or with CLCNKB mutations in Bartter syndrome (2, 3). Ion channel: Contributes to fluid-flow sensation by primary cilium in renal epithelium Activated by bending of the apical cilium in some epithelia Senses fluid flow parallel to the epithelial surface.

Ion Channels and Disease provides an informative and up-to-date account of our present understanding of ion channels and the molecular basis of ion channel diseases.

It includes a basic introduction to the relevant aspects of molecular biology and biophysics and a brief description of the principal methods used to study channelopathies. 14 ACNR • VOLUME 3 NUMBER 1 MARCH/APRIL Muscle ion channel diseases The inherited muscle ion channel diseases (muscle channelopathies) are a group of disorders of skeletal muscle membrane excitability characterised by variable muscle stiffness and/or intermittent weakness.

Ion channel disease

29 rows · Channelopathies are diseases caused by disturbed function of ion channel subunits or the . There are many diseases related to ion channels. Mutations in muscle voltage-gated sodium, potassium, calcium and chloride channels, and acetylcholine-gated channel may lead to such physiological disorders as hyper- and hypokalemic periodic paralysis, myotonias, long QT syndrome, Brugada syndrome.

Ion channel - Wikipedia