Gencik M, Dahmen N, Wieczorek S, Kasten M, Gencikova A, Epplen J T
Molecular Human Genetics, Ruhr-University, D-44780 Bochum, Germany.
BMC Med Genet. 2001;2:9. doi: 10.1186/1471-2350-2-9. Epub 2001 Aug 9.
Narcolepsy is a common neuropsychiatric disorder characterized by increased daytime sleepiness, cataplexy and hypnagogic hallucinations. Deficiency of the hypocretin neurotransmitter system was shown to be involved in the pathogenesis of narcolepsy in animals and men. There are several hints that neurodegeneration of hypocretin producing neurons in the hypothalamus is the pathological correlate of narcolepsy. The ApoE4 allele is a major contributing factor to early-onset neuronal degeneration in Alzheimer disease and other neurodegenerative diseases as well.
To clarify whether the ApoE4 phenotype predisposes to narcolepsy or associates with an earlier disease onset, we have genotyped the ApoE gene in 103 patients with narcolepsy and 101 healthy controls.
The frequency of the E4 allele of the ApoE gene was 11% in the patient and 15% in the control groups. Furthermore, the mean age of onset did not differ between the ApoE4+ and ApoE4- patient groups.
Our results exclude the ApoE4 allele as a major risk factor for narcolepsy.
发作性睡病是一种常见的神经精神疾病，其特征为日间嗜睡增加、猝倒和入睡前幻觉。下丘脑分泌素神经递质系统的缺陷已被证明与动物和人类发作性睡病的发病机制有关。有若干线索表明，下丘脑中分泌下丘脑分泌素的神经元发生神经退行性变是发作性睡病的病理相关因素。载脂蛋白E4等位基因也是阿尔茨海默病和其他神经退行性疾病早期神经元变性的主要促成因素。
为了阐明载脂蛋白E4表型是否易患发作性睡病或与疾病的较早发病相关，我们对103例发作性睡病患者和101名健康对照者的载脂蛋白E基因进行了基因分型。
载脂蛋白E基因的E4等位基因频率在患者组中为11%，在对照组中为15%。此外，载脂蛋白E4阳性和载脂蛋白E4阴性患者组之间的平均发病年龄没有差异。
我们的结果排除了载脂蛋白E4等位基因作为发作性睡病主要危险因素的可能性。
