Disorders of neuromuscular junction ion channels.
Ion channel defects produce a clinically diverse set of disorders that range from cystic fibrosis and some forms of migraine to renal tubular defects and episodic ataxias. This review discusses diseases related to impaired function of the skeletal muscle acetylcholine receptor and calcium channels of the motor nerve terminal. Myasthenia gravis is an autoimmune disease caused by antibodies directed toward the skeletal muscle acetylcholine receptor that compromise neuromuscular transmission. Congenital myasthenias are genetic disorders, a subset of which are caused by mutations of the acetylcholine receptor. Lambert-Eaton myasthenic syndrome is an immune disorder characterized by impaired synaptic vesicle release likely related to a defect of calcium influx. The disorders will illustrate new insights into synaptic transmission and ion channel structure that are relevant for all ion channel disorders.
D000109:Acetylcholine / Q000276:immunology; D001323:Autoantibodies / Q000097:blood; D005260:Female; D006801:Humans; D007473:Ion Channels / Q000378:metabolism*; D015624:Lambert-Eaton Myasthenic Syndrome / Q000503:physiopathology; D008297:Male; D016296:Mutagenesis; D009154:Mutation; D009157:Myasthenia Gravis / Q000235:genetics / Q000276:immunology / Q000503:physiopathology; D009468:Neuromuscular Diseases / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology*; D009469:Neuromuscular Junction / Q000503:physiopathology*; D011950:Receptors, Cholinergic / Q000235:genetics; D012737:Sex Factors