What Are Channelopathies?
Ion channel disease refers to a disease caused by an abnormal structure or function of an ion channel. It is specifically manifested when a gene encoding an ion channel subunit is mutated or expressed abnormally, or when a pathological endogenous substance for the channel appears in the body. Functions have been weakened or enhanced to varying degrees, leading to disorders of the overall physiological function of the body and the formation of certain congenital or acquired diseases that mainly affect nerves, muscles, heart, kidneys and other systems and organs. So far, clearer ion channels have been studied. The disease mainly involves the fields of potassium, sodium, calcium and chlorine channels.
Ion channel disease
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- Western Medicine Name
- Ion channel disease
- Main cause
- Structural or functional abnormality of the ion channel
- Contagious
- Non-contagious
- Whether to enter health insurance
- no
- Ion channel disease refers to a disease caused by an abnormal structure or function of an ion channel. It is specifically manifested when a gene encoding an ion channel subunit is mutated or expressed abnormally, or when a pathological endogenous substance for the channel appears in the body. Functions have been weakened or enhanced to varying degrees, leading to disorders of the overall physiological function of the body and the formation of certain congenital or acquired diseases that mainly affect nerves, muscles, heart, kidneys and other systems and organs. So far, clearer ion channels have been studied. The disease mainly involves the fields of potassium, sodium, calcium and chlorine channels.
- Potassium channels play an important role in important signaling processes of all excitable and non-excitable cells. Its family members regulate neurotransmitter release, heart rate, insulin secretion, neuronal secretion, epithelial electrical conduction, and skeletal muscle contraction And cell volume play an important role. Potassium channel disease has been found to be autosomal dominant benign familial neonatal convulsions (BFNC), episodic ataxia type 1 (episodic ataxia type 1), Paroxysmal choreo-ataxia with paroxysmal choreoathetosis with episodic ataxia, epilepsy, type 1-, 2-, 5-, 6-long QT syndrome, Jervell and Lange-nielsen syndrome [3 ], Andersen syndrome [4], etc.
- Sodium channels play an important role in the initial stage of action potentials of most excitatory cells. Sodium channel diseases have been found to include high potassium periodic paralysis, normal blood potassium periodic paralysis, some low potassium periodic paralysis, congenital Paramuscular tonicity, myasthenia with various types of potassium aggravation, congenital myasthenia gravis, type 3 long QT syndrome, type 1 pseudoaldosteronism, Liddle syndrome [5], generalized epilepsy fever seizures ( generalized epilepsy with febrile seizures plus) [6] etc.
- Calcium channels are widely present in different types of tissue cells of the body, and are involved in the physiological processes of the nervous, muscle, secretory, reproductive and other systems. Calcium channel diseases have been found to include familial hemiplegic migraine, low potassium periodic paralysis, -Type paroxysmal ataxia, type 6 spinocerebellar ataxia, central core disease of muscle, malignant hyperthermia, Lambert-Eaton myasthenic syndrome [7], epilepsy, etc.
- Chloride ion channels are widely distributed in the body's excitatory and non-excitable cell membranes and the plasma membranes of organelles such as lysosomes, mitochondria, and endoplasmic reticulum, which regulate cell excitability, transepithelial substance transport, cell volume regulation, and organelle acidification. It has important effects. Chloride channel diseases that have been found include congenital myotonia (Thomsen type), recessive hereditary systemic myotonia (Becker type), cystic fibrosis, hereditary nephrolithiasis, 3-type Bartter synthesis Sign [8], etc.