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【medical-news】哮喘新基因发现
Asthma Gene Newly Uncovered
Discovery could lead to new treatments for the debilitating lung disorder
Scientists have discovered a gene mutation that could up the risk of developing asthma by as much as 80 percent. A study of more than 2,000 children has pinpointed a single gene that may be at the core of the debilitating lung disease, which affects some 20 million Americans.
The gene, known as ORMDL3, is located on chromosome 17 (of the 23 chromosome pairs in the human genome); elevated levels of the protein for which it codes were found in the white blood cells of asthmatics.
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The team reports in Nature that a single mutation in the script of nucleotides that form this gene may markedly increase a person's chances developing the illness.
"The most strongly associated polymorphism [(variation in DNA)] … increased the risk of asthma by 80 percent and potentially contributed to the disease in 30 percent of asthmatic children," says senior author William Cookson, professor of respiratory genetics at Imperial College London.
Cookson and colleagues compared the genetic profiles of 994 sufferers of childhood-onset asthma with those of 1,243 healthy children. They combed through more than 317,000 single-base mutations before they zeroed in on ORMDL3 as a possible risk factor. The genetic analysis was further bolstered by the hyperactivity of the gene in the blood cells of the asthmatics.
The researchers compared their genetic results with a sample of 2,000-plus children in Germany and a trial of 3,000 British subjects born in 1958. Many subjects in these studies showed flaws in the same section of the genome.
The function of ORMDL3 is unknown, Cookson says. But "similar genes are found as far back in evolution as yeast," he adds, "so it is part of an ancient mechanism and is presumably acting in innate immunity."
Even though the gene's role remains a mystery, researchers still believe it has therapeutic potential. "Its structure suggests that it may be a drug target," Cookson says. "We will now be investigating this possibility, but it will take a few years before any new treatments are likely. 本人认领此文. 如在48小时内未能提交译文, 其他战友自由认领. .红字处, 请指正. 谢谢先 编译
哮喘基因新发现
科学家们发现一处基因突变，它可以使哮喘发生风险增高80%，且可能是30%哮喘儿童的潜在病因。
这一基因名为ORMDL3，位于人类第17号染色体。伦敦帝国大学呼吸遗传学教授Cookson及其同事比较了994名哮喘病患儿与1243名健康儿童的基因图谱，筛查了超过317000单个碱基突变，最后锁定ORMDL3为可能危险因子。哮喘患者白细胞中这一基因过度活化，它所编码的蛋白质水平增高，更进一步支持遗传分析结果。
研究人员还对2000多名德国儿童及1958年出生的3000名英国人的遗传分析结果进行了比较，发现很多个体这一基因的相同区域也有缺陷。
Cookson 称，ORMDL3的机制还不清楚，它可能在自然免疫中起作用。ORMDL3的结构使其有可能成为药物的作用靶向，但新疗法的开发可能还需要数年时间才能实现。 [标签:content1][标签:content2]
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作者:admin@医学,生命科学 2011-02-28 05:12
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