Title : Nicotinic acetylcholine receptors in human genetic disease - Schaaf_2014_Genet.Med_16_649
Author(s) : Schaaf CP
Ref : Genet Med , 16 :649 , 2014
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.

PubMedSearch : Schaaf_2014_Genet.Med_16_649
PubMedID: 24556925

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Schaaf CP (2014)
Nicotinic acetylcholine receptors in human genetic disease
Genet Med 16 :649

Schaaf CP (2014)
Genet Med 16 :649