Ion channels-related diseases

Acta Biochim Pol. 2000;47(3):685-703.

Abstract

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, malignant hyperthermia and myasthenia. Neuronal disorders, e.g., epilepsy, episodic ataxia, familial hemiplegic migraine, Lambert-Eaton myasthenic syndrome, Alzheimer's disease, Parkinson's disease, schizophrenia, hyperekplexia may result from dysfunction of voltage-gated sodium, potassium and calcium channels, or acetylcholine- and glycine-gated channels. Some kidney disorders, e.g., Bartter's syndrome, policystic kidney disease and Dent's disease, secretion disorders, e.g., hyperinsulinemic hypoglycemia of infancy and cystic fibrosis, vision disorders, e.g., congenital stationary night blindness and total colour-blindness may also be linked to mutations in ion channels.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Calcium Channels / genetics
  • Calcium Channels / metabolism
  • Chloride Channels / genetics
  • Chloride Channels / metabolism
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / metabolism
  • Epilepsy / genetics
  • Epilepsy / metabolism
  • Heart Diseases / genetics
  • Heart Diseases / metabolism
  • Humans
  • Ion Channels / genetics*
  • Ion Channels / metabolism*
  • Malignant Hyperthermia / genetics
  • Malignant Hyperthermia / metabolism
  • Metabolic Diseases / genetics*
  • Metabolic Diseases / metabolism*
  • Muscular Diseases / genetics
  • Muscular Diseases / metabolism
  • Mutation*
  • Potassium Channels / genetics
  • Potassium Channels / metabolism
  • Receptors, Glycine / genetics
  • Receptors, Glycine / metabolism
  • Receptors, Nicotinic / genetics
  • Receptors, Nicotinic / metabolism
  • Sodium Channels / genetics
  • Sodium Channels / metabolism

Substances

  • CFTR protein, human
  • Calcium Channels
  • Chloride Channels
  • Ion Channels
  • Potassium Channels
  • Receptors, Glycine
  • Receptors, Nicotinic
  • Sodium Channels
  • Cystic Fibrosis Transmembrane Conductance Regulator