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Narcolepsy and the HLA region.

机译:发作性睡病和HLA地区。

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摘要

Narcolepsy was first shown to be tightly associated with HLA-DR2 and DQ1 in 1983, suggesting a possible autoimmune mechanism. Early investigations failed to demonstrate this hypothesis, postulating that HLA-DR2 was only a linkage marker for another, unknown narcolepsy-causing gene. The autoimmune hypothesis is now being re-evaluated under the light of recent results. Like many other autoimmune disorders, narcolepsy usually starts during adolescence, is human leukocyte antigen (HLA)-associated, multigenic and environmentally influenced. Furthermore, HLA-association studies indicated a primary HLA-DQ effect with complex HLA class II allele interactions and a partial contribution of HLA to overall genetic susceptibility. Finally, recent result suggests that human narcolepsy is associated with the destruction of a small number of hypothalamic neurons containing the peptide hypocretins (orexins). This data is consistent with an immune destruction of hypocretin-containing cells as the most common etiology for human narcolepsy.
机译:发作性睡病于1983年首次显示与HLA-DR2和DQ1紧密相关,提示可能存在自身免疫机制。早期研究未能证明这一假设,认为HLA-DR2只是另一个未知的发作性睡病致病基因的连锁标记。现在根据最近的结果重新评估自身免疫假说。像许多其他自身免疫性疾病一样,发作性睡病通常在青春期开始,是与人类白细胞抗原(HLA)相关,多基因且受环境影响的。此外,HLA关联研究表明,主要的HLA-DQ效应具有复杂的HLA II类等位基因相互作用,并且HLA对总体遗传易感性有部分贡献。最后,最近的结果表明,人类发作性睡病与少量含有肽降钙素(orexins)的下丘脑神经元的破坏有关。该数据与作为人类发作性睡病最常见的病因的含有降血糖素的细胞的免疫破坏相一致。

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