烟碱型受体β2亚基在夜间额叶癫痫中发生突变。

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy.

作者信息

De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, Casari G

机构信息

Telethon Institute of Genetics and Medicine, San Raffaele Biomedical Science Park, Milan, Italy.

出版信息

Nat Genet. 2000 Nov;26(3):275-6. doi: 10.1038/81566.

DOI:10.1038/81566

PMID:11062464

Abstract

Clustered attacks of epileptic episodes originating from the frontal lobe during sleep are the main symptoms of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE, MIM 600513). Despite the clinical homogeneity, three forms of ADNFLE have been associated with chromosomes 20 (ENFL1; ref. 1), 15 (ENFL2; ref. 2) and 1 (ENFL3; ref. 3). Mutations of the gene encoding the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4 ) have been found in ADNFLE-ENFL1 families, but these mutations account for only a small proportion of ADNFLE cases. The newly identified locus associated with ENFL3 harbours several candidate genes, including CHRNB2 (ref. 8), whose gene product, the beta 2 nicotinic acetylcholine receptor (nAChR) subunit, co-assembles with the alpha 4 nAChR subunit to form the active receptor.

摘要

睡眠期间起源于额叶的成簇癫痫发作是常染色体显性遗传性夜间额叶癫痫（ADNFLE，MIM 600513）的主要症状。尽管临床表现具有同质性，但三种形式的ADNFLE分别与20号染色体（ENFL1；参考文献1）、15号染色体（ENFL2；参考文献2）和1号染色体（ENFL3；参考文献3）相关。在ADNFLE - ENFL1家族中发现了编码神经元烟碱型乙酰胆碱受体α4亚基（CHRNA4）的基因突变，但这些突变仅占ADNFLE病例的一小部分。新确定的与ENFL3相关的基因座包含几个候选基因，包括CHRNB2（参考文献8），其基因产物β2烟碱型乙酰胆碱受体（nAChR）亚基与α4 nAChR亚基共同组装形成活性受体。