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Science:罕见的振动“过敏”症与基因缺陷有关

摘要 : 如果你患有罕见的、被称为振动性荨麻疹的病症,那么你可能要小心使用草坪剪草机和电动搅拌机。任何与你皮肤产生摩擦和振动的动作,甚至是弄干一条毛巾,都会让你全身暴发红疹,脸发烫,头疼,或是感受到金属味的味道。

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如果你患有罕见的、被称为振动性荨麻疹的病症,那么你可能要小心使用草坪剪草机和电动搅拌机。任何与你皮肤产生摩擦和振动的动作,甚至是弄干一条毛巾,都会让你全身暴发红疹,脸发烫,头疼,或是感受到金属味的味道。这种疾病是在家族中遗传的,但它如此罕见以至于致力于此的研究人员多年来只追踪到为数不多的个例。但一项针对三个有这种病症的家庭的基因研究揭示了这种奇怪症状的潜在机制。今天在《新英格兰医学杂志》网络版上发表的研究论文描述了名为ADGRE2的基因的一种突变,22个患有振动荨麻疹的患者身上都发现了这种基因突变,但在他们没有这种病症的14位亲戚身上并没有发现该突变。他们在肥大细胞的表面发现了一种受体蛋白的基因编码——肥大细胞是皮肤里的免疫细胞,能将组胺这类可加大一个地区的血流量并引起荨麻疹的炎症分子清除出去。研究人员观察到,在细胞皿中震动这种受体蛋白会分解它的两种亚基,从而促使组胺的释放。在带有这种新发现的突变基因的人群中,这种受体更容易断裂,从而导致身体创伤处的保护性免疫反应失去控制。

原文链接:

Rare ‘allergy’ to vibrations tied to faulty gene

原文摘要:

If you have the rare condition known as vibratory urticaria, you may be wary of handling lawnmowers and electric mixers. Rubbing or vibration against your skin—even from drying off with a towel—can cause you to break out in hives, make your face flush, give you headaches, or produce the sensation of a metallic taste. The condition, which runs in families, is so rare that the researchers who work on it have only tracked down a few cases over years of searching. But a genetic study on three such unique families has revealed a potential mechanism for the strange symptoms. Research published online today in The New England Journal of Medicine describes a mutation in a gene called ADGRE2, found in 22 people with vibratory urticaria, but not in 14 of their unaffected relatives. The gene codes for a receptor protein that was found on the surface of mast cells—immune cells in the skin that dump out inflammatory molecules such as histamines that increase blood flow to an area and can cause hives. The researchers observed that shaking mast cells in a dish breaks apart two subunits of this receptor protein, which prompts histamine release. In people with the newly discovered mutation, the receptor is more prone to breakage, which causes this protective immune response at the site of physical trauma to run amok.

来源: Science 浏览次数:0

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