【独家翻译】研究人员发现自身免疫疾病的潜在遗传触发（中英对照版）

翻译：Pearl Chen（翻译志愿者）

Researchers discover potential genetic trigger of autoimmune disease

研究人员发现自身免疫疾病的潜在遗传触发

Source:

Hospital for Special Surgery

Summary:

Researchers have uncovered a potential genetic trigger of systemic autoimmune disease. The study discovered virus-like elements within the human genome linked to the development of two autoimmune diseases: lupus and Sjogren's syndrome.

资源：

         纽约特种外科医院

摘要：

         研究人员已经发现了自身免疫疾病的一种潜在遗传触发。这个研究揭示了存在于人体基因组的类病毒元素与两种自身免疫疾病——红斑狼疮和干燥综合征的发生有关联。

Researchers at Hospital for Special Surgery (HSS) have uncovered a potential genetic trigger of systemic autoimmune disease. The study, the culmination of more than 10 years of research and published online in the journal Arthritis & Rheumatology in June, discovered virus-like elements within the human genome linked to the development of two autoimmune diseases: lupus and Sjogren's syndrome.

纽约特种外科医院的研究人员已经发现了自身免疫疾病的一种潜在遗传触发。他们的研究进行了超过10年的时间，并且在6月份的时候发表在了Arthritis & Rheumatology 网上期刊上。这篇研究揭示了存在于人体基因组的类病毒元素与两种自身免疫疾病——红斑狼疮和干燥综合征的发生有关联。

An autoimmune disorder occurs when the body's immune system malfunctions. Instead of protecting the body, it attacks and destroys healthy organs. More than 80 types of autoimmune disorders, including rheumatoid arthritis, lupus and Sjogren's syndrome, affect up to 22 million people in the United States, according to the National Institutes of Health.

当一种全身性免疫疾病出现时，人体的免疫系统就会出现故障。与保护人体相反，全身性免疫疾病的出现会攻击并破坏健康的器官。根据美国国立卫生研究院的统计，目前有超过80种全身性免疫疾病，包括类风湿性关节炎、红斑狼疮、干燥综合征等等，影响到的美国人群数量高达2200万。

The precise cause of autoimmune diseases remains a mystery, but most scientists believe a combination of genetic and environmental factors come into play. For example, viral infections have been linked to the development of these disorders.

全身性免疫疾病的准确发病原因依旧是未解之谜，但是很多科学家都相信这是遗传和环境因素综合作用的结果。比如，病毒感染也与这些疾病的出现有关。

For their study, HSS researchers  hypothesized that the abnormal expression of genetic elements known as LINE-1 ( L1) retroelements might trigger an innate immune response similar to that produced by outside viruses and contribute to an overproduction of interferons. Interferons are molecules our body produces in the presence of viruses and other pathogens to mobilize the immune system.

对于这项研究，纽约特种外科医院的研究人员猜测到L1逆转录因子，也就是异常表达的遗传因子，可能会触发一种类似于由外部病毒引起的先天性免疫反应，并且会引起干扰素的生产过剩。干扰素是我们人体在病毒出现和其他病原体攻击免疫系统的情况下所产生的微小颗粒。

In healthy individuals, interferon is part of the complex immune response to combat danger. However, if levels of interferon are too high, instead of playing a protective role it can contribute to the development of autoimmune disease.

在健康的人群中，干扰素是对抗危险的复杂免疫反应中的一部分。然而，一旦干扰素的水平过高，与之前保护人体的角色相反，他会导致全身性免疫疾病的出现。

"In a number of these diseases, such as lupus and Sjogren's syndrome, a class of interferon known as type 1 interferon is made in abundance and plays a key role, contributing to the immune dysfunction," said Mary K. Crow, MD, physician-in-chief at Hospital for Special Surgery and senior study author.

“在这些疾病中，例如在红斑狼疮和干燥综合征中，一种被称为1型干扰素的干扰素存在的数量十分丰富，并且是引起免疫功能紊乱的主要因素。”医学博士Mary K. Crow说道，他是纽约特种外科医院的主任医师，也是一名高级研究作者。

Investigators set out to discover why interferon was being produced in excess. "We hypothesized that virus-like DNA sequences inherent in our own genomes or the RNA transcripts they produce might be driving the production of interferon and contributing to disease," said Dr. Crow, chair, Department of Medicine, and Benjamin M. Rosen Chair in Immunology and Inflammation Research at HSS. "Our genomes are packed with sequences derived from viruses that were inserted many thousands of years ago, and these virus-like sequences can move around, causing genetic mutations and contributing to the evolution of our genomes. We hypothesized that they sometimes generate virus-like RNA sequences that can be detected by the immune system."

研究员开始去探索为什么干扰素会出现生产过剩的情况。“我们猜测，类病毒DNA序列是在我们基因组中固有的或者他们生产的RNA转录推动了干扰素的产生以及疾病的出现。”医学教授Crow博士和纽约特种外科医院免疫学和炎症教授Benjamin M. Rosen说道，“我们的基因组在几千年以前就存在来自病毒的序列，并且这些类病毒序列也会移动，引起基因突变，使得我们的基因组的进化。我们推测，他们有事会产生类病毒的RNA序列，这些序列可以被免疫系统检测到。”

Researchers studied kidney biopsy samples from 24 patients with lupus nephritis and salivary gland tissue from 31 patients with Sjogren's syndrome and compared them to healthy tissue.

研究员将从24个红斑狼疮病人那里获得的肾活检标本和31个干燥综合征病人那里获得的唾液腺组织进行对比。

"Our findings support the hypothesis that L1 retroelements, perhaps along with other virus-derived genomic elements, may contribute to the development of autoimmune disorders characterized by high levels of type 1 interferon," she said. "Although it may not be the only cause, it's intriguing to think that virus-derived elements in our own genome are either quiet and don't cause any trouble, or they get stirred up and contribute to disease."

“我们的研究结果支持之前的假说，也就是根据1型干扰素的高水平特征，L1逆转录因子，这一可能伴随着其他病毒衍生的基因组元素的逆转录因子，也许就是导致全身性免疫疾病产生的原因。”她说，“虽然它不是唯一的病因，但是有一点是值得耐人寻味的，就是存在于我们基因组的病毒来源因素，要么安静不造成任何麻烦，要么被激发引起疾病。”

Further studies are needed to elucidate the role of both exogenous and endogenous viruses in the development of autoimmune disease, Dr. Crow said. Gaining a better understanding of the underlying disease mechanisms could offer the possibility of developing new and better treatments for lupus and other autoimmune conditions in the future.

“我们需要更进一步的研究去阐明外源性和内源性病毒在全身性免疫疾病中所扮演的角色。”Crow博士说道，“对于潜在的疾病机制有一个更好的理解将会为红斑狼疮和其他全身性免疫疾病提供一个更新更好的治愈方法。”

Story Source:

The above post is reprinted from materials provided by Hospital for Special Surgery. Note: Materials may be edited for content and length.

故事来源：

上面的帖子是转载纽约特种外科医院提供的材料。注：材料可编辑的内容和长度。