title: Nicotinic acetylcholine receptors in human genetic disease.
abstract: Nicotinic acetylcholine receptors represent a family of ligand-gated ion channels that are widely expressed in the central and peripheral nervous systems. To date, 16 genes encoding subunits of mammalian nicotinic acetylcholine receptors have been identified. The various subunits form homomeric or heteromeric receptor proteins, allowing for a complex and adaptable system of nicotinic neurotransmission. Mutations of nicotinic receptor genes can cause Mendelian disorders, most importantly congenital myasthenic syndromes, multiple pterygium syndromes, and nocturnal frontal lobe epilepsies. Haploinsufficiency of CHRNA7 predisposes to neuropsychiatric phenotypes in 15q13.3 deletion syndrome. The role of various nicotinic receptor genes is also discussed for complex disorders such as addiction, schizophrenia, Alzheimer disease, and Parkinson disease.
authors.affiliation: 1] Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, Texas, USA [2] Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.
authors.forename: Christian P
authors.initials: CP
authors.lastname: Schaaf
mesh_terms: D000818:Animals; D056915:DNA Copy Number Variations; D056726:Genetic Association Studies; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000628:therapy; D020022:Genetic Predisposition to Disease; D006801:Humans; D001523:Mental Disorders / Q000175:diagnosis / Q000235:genetics; D020412:Multifactorial Inheritance; D019636:Neurodegenerative Diseases / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D011978:Receptors, Nicotinic / Q000235:genetics*; D064569:alpha7 Nicotinic Acetylcholine Receptor / Q000235:genetics
chemical_list: D011978:Receptors, Nicotinic; D064569:alpha7 Nicotinic Acetylcholine Receptor