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胆固醇与眼病存在基因相关性

(2010-04-17 20:15:33)
标签:

胆固醇

眼睛

黄斑变性

疾病

健康

分类: 医学报道
 
导致失明的发病率最高的三大眼病是哪些?最多可选3项
发起时间:2010-04-17 20:00    截止时间:2012-12-31 23:00    投票人数:0人
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    胆固醇与眼病存在基因相关性

     

    Cholesterol Genetically Linked to Eye Disease

     

    by Cassandra Willyardon April 12, 2010 3:06 PM

     

        Two genetic studies involving thousands of participants suggest that age-related macular degeneration, an eye disease common among the elderly, is tied to a gene that helps regulate “good” cholesterol. The studies present the first genetic evidence of a link between cholesterol and the disease, and they may lead scientists to identify new targets for therapy.

        年龄相关性黄斑变性在老年人群中很常见,据两项关于上千名此病患者的基因学研究显示,这跟一种能调控“好”胆固醇的基因具有紧密的联系。研究阐述了胆固醇与该病之间关联的最初基因学证据,这可能促使科学家明确疾病治疗的目标。

     

        Age-related macular degeneration is the leading cause of blindness in older adults in the United States. Lesions form behind the retina, impeding the center of an individual’s field of vision. A link between cholesterol and an eye disease might sound strange, but scientists have known for years that cholesterol can accumulate at the back of the eye as part of aging. Moreover, cholesterol is a major component of the macular lesions. What role cholesterol plays in the eye, however, remains unclear.

        在美国,年龄相关性黄斑变性是导致老年民众失明的最主要原因。视网膜后部形成的损害会阻碍一个人视野的中央区域。胆固醇和眼疾之间存在的这种听起来很奇特的关联,科学家结果多年的研究发现胆固醇能够在年龄的增长下快速在眼球后方沉积。此外,胆固醇还是黄斑变性的主要组成成分,而它在眼睛里究竟起一种什么作用还不是很清楚。

     

     胆固醇与眼病存在基因相关性

    Out of sight. Individuals with advanced age-related macular degeneration (right) have trouble seeing objects in the center of their field of vision.

    Credit: National Eye Institute, National Institutes of Health

     

        In the new work, scientists compared the genomes of people who have macular degeneration with the genomes of healthy individuals to search for genetic variants that occur more frequently among one group or the other.

        在这次新的研究中,科学家就爱那个黄斑变性患者的基因组和健康者进行比对,通过这种方式去寻找一组较另一组经常发生的基因变异。

     

        In the first study, Johanna Seddon, a genetic epidemiologist at Tufts University in Boston and colleagues scanned the genomes of 979 people with advanced degeneration and 1709 healthy people. The researchers found a strong association with a variant of the hepatic lipasegene (LIPC). LIPCcodes for an enzyme involved in the metabolism of HDL, or “good,” cholesterol. People with this variant had an 18% reduced risk of having the disease. A scan of 4337 other cases and 2077 controls yielded the same result. The researchers also found weaker associations with three other genes involved in the HDL pathway: ABCA1, CETP, and LPL. These weaker associations did not meet the strict criteria necessary in this type of study to achieve statistical significance.

        在这项新的研究中,波士顿塔夫斯大学的基因流行病学专家约翰娜·赛登和同事们对979名晚期退化患者和1709名健康人士进行基因扫描。研究人员发现肝脏脂肪酶(LIPC)基因的变异与此具有紧密的联系。 LIPC的编码关系到HDL即“好”胆固醇的正常代谢。有这种变异的人患病的风险会下降18%。对另外的4337名病例和2077名对照人员的扫描也得出相同的结论。研究人员还发现其他三种与HDL通道相关的酶与疾病存在较弱的相关性。在对这一类型的研究数据进行统计学分析后发现,这种较弱的相关性并不符合严密的标准需求。

     

        In the second study, a team led by Anand Swaroop, a molecular geneticist at the National Eye Institute in Bethesda, Maryland, confirmed the same link between macular degeneration and LIPC. The researchers also independently connected the disease to ABCA1, CETP, and LPL when they scanned the genomes of 2157 people with macular degeneration and 1150 controls. Both studies appear online today in the Proceedings of the National Academy of Sciences.

        在第二项研究中,由马里兰州贝塞斯达国家眼科协会的分子基因学家阿南德斯瓦鲁普领衔的研究小组确信在黄斑变性与LIPC之间的确存在与此前相同的关联。研究人员扫描了2157名黄斑变性患者和1150名对照人员,完全独立的将该病同ABCA1、CETP和LPL三种酶关联起来。两项研究都在当日的《国家科学学会会刊》上发表。

     

        These results point to a relationship between the HDL pathway and risk of age-related macular degeneration, but they don’t explain that connection. One idea, Seddon says, is that HDL may act as a transport system for the eye, ferrying in nutrients that protect the retina from the bloodstream.

        这些研究结果直指高密度脂蛋白通路与黄斑变性之间的关联,但目前他们还不能解释这种联系。赛登说,有一种情况可能是:对于眼睛来说,高密度脂蛋白可能是扮演一种传导系统,通过输送血流中的营养物质来保护视网膜。

     

        It’s a plausible mechanism, says Christine Curcio, a histopathologist at the University of Alabama, Birmingham, who was not involved with the work. “If there's some variant that causes [that nutrition system] to be less efficient,” she says, “that could have some long-term effect on susceptibility to eye disease.”

        伯明翰亚拉巴马州立大学的组织病理学家克里斯汀·柯西奥也参加了这项工作,她认为这是一种似乎可行的作用机制。她谈到:“如果某些因素(如营养系统)发生了变化,那就不会这么有效了,而且还会对眼睛的敏感度产生一些深远的影响。”

     

        Curcio anticipates that these papers will prompt more research aimed at understanding the role of cholesterol in the eye, which could help scientists identify potential drug targets. Pharmaceutical companies may not necessarily have to develop new medications, however. Curcio says existing cholesterol drugs delivered locally to the eye may benefit patients. “We can piggyback on decades of hard work in service of understanding heart disease,” she says.

        柯西奥期待这些文章能够促使研究关注于对胆固醇对眼睛的作用问题上,这可以帮助科学家确定潜在的药物靶点。尽管如此,但是药品厂家不太可能会去研发新药。她说:"胆固醇药物在眼睛局部应用的出现,对病人来说可能是一个福音。为了致力于对心脏病的了解,我们能够在几十年里挑起这个艰巨的重任!"

     

     

     

                                                    ——Vegitta

     

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