CHRNA2

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• 作者：Romina Combi ; Luigi Ferini-Strambi ; Maria Luisa Tenchini
• 关键词：Frontal lobe epilepsy ; CHRNA2 ; Mutation ; NFLE ; Genetics ; Nicotinic acetylcholine receptor
• 刊名：Sleep Medicine
• 出版年：2009
• 出版时间：January 2009
• 年：2009
• 卷：10
• 期：1
• 页码：139-142
• 全文大小：91 K

文摘

Objective

Forty-six nocturnal frontal lobe epilepsy (NFLE) patients (in which the involvement of the CHRNA4 and CHRNB2 genes coding for neuronal nicotinic acetylcholine receptor (nAChRs) subunits associated to the disease were previously excluded) were analyzed for the presence of mutations in the CHRNA2 gene coding for the alpha2 subunit of the same receptor, which has been recently associated with the disease.

Methods

Mutational screening was performed by sequencing two polymerase chain reaction-amplified CHRNA2 DNA fragments, spanning the whole exon 6 and exon 7, respectively, which code for 75 % of the mature protein and contain all four transmembrane domains contributing to the ion pore.

Results

No mutations were identified in the analyzed region of CHRNA2.

Conclusions

These data demonstrate the rarity of the identified CHRNA2 mutations in NFLE patients, supporting the recently reported hypothesis of a restricted role for this gene in the disease.